Product Details

Assay Reference Genome
Location

Chr.15:43603428 on build GRCh38
Cytoband
15q15.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
161497
Gene Symbol
STRC
Gene Name
stereocilin
Gene Aliases
DFNB16
Location
Chr.15:43599243-43619669 on build GRCh38
Assay Gene Location
Overlaps Intron 36 - Exon 37
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
STRC NM_153700.2 NP_714544.1
XM_011521278.2 XP_011519580.1
XM_017021954.1 XP_016877443.1
XM_017021955.1 XP_016877444.1
XM_017021956.1 XP_016877445.1
XM_017021957.1 XP_016877446.1
XM_017021958.1 XP_016877447.1
XM_017021959.1 XP_016877448.1
XM_017021962.1 XP_016877451.1
AK090757.1
AK124582.1
AK126721.1
BC129931.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv832988 Chr15:43512443 - 43684664 on Build GRCh38 Loss STRC MAP1A CKMT1B PPIP5K1 CATSPER2
dgv733e212 Chr15:43596009 - 43703698 on Build GRCh38 Gain STRC CKMT1B CATSPER2 STRCP1 CKMT1A
nsv437799 Chr15:43491802 - 43697320 on Build GRCh38 Loss STRC TP53BP1 MAP1A CKMT1B PPIP5K1 CATSPER2 CKMT1A
nsv9250 Chr15:43600811 - 43604249 on Build GRCh38 Loss STRC
nsv433293 Chr15:43603445 - 43647444 on Build GRCh38 Loss STRC CATSPER2
dgv2584n100 Chr15:43600874 - 43703678 on Build GRCh38 Gain+Loss STRC CATSPER2 STRCP1 CKMT1A
nsv1514 Chr15:43567062 - 43704382 on Build GRCh38 Deletion STRC CKMT1B PPIP5K1 CATSPER2 STRCP1 CKMT1A
nsv1070270 Chr15:43577801 - 43651202 on Build GRCh38 Deletion STRC CKMT1B PPIP5K1 CATSPER2
nsv569243 Chr15:43599314 - 43646090 on Build GRCh38 Gain STRC CKMT1B CATSPER2
esv3892682 Chr15:43596778 - 43647444 on Build GRCh38 Loss STRC CKMT1B CATSPER2
nsv509569 Chr15:43552272 - 43621659 on Build GRCh38 Insertion STRC CKMT1B PPIP5K1
esv33424 Chr15:43596757 - 43703025 on Build GRCh38 Loss STRC CKMT1B CATSPER2 STRCP1 CKMT1A
nsv569247 Chr15:43601620 - 43647444 on Build GRCh38 Loss STRC CATSPER2
nsv1160289 Chr15:43553305 - 43684220 on Build GRCh38 Deletion STRC CKMT1B PPIP5K1 CATSPER2
nsv428304 Chr15:43530960 - 43716382 on Build GRCh38 Loss STRC MAP1A CKMT1B PPIP5K1 CATSPER2 STRCP1 CKMT1A
esv2749626 Chr15:43596837 - 43696748 on Build GRCh38 Deletion STRC CKMT1B CATSPER2 CKMT1A
esv3569487 Chr15:43559201 - 43684983 on Build GRCh38 Gain STRC CKMT1B PPIP5K1 CATSPER2
esv3569520 Chr15:43596064 - 43762536 on Build GRCh38 Gain STRC CKMT1B CATSPER2 STRCP1 PDIA3 CKMT1A CATSPER2P1
dgv732e212 Chr15:43576373 - 43703698 on Build GRCh38 Loss STRC CKMT1B PPIP5K1 CATSPER2 STRCP1 CKMT1A
esv24113 Chr15:43559946 - 43696443 on Build GRCh38 Gain+Loss STRC CKMT1B PPIP5K1 CATSPER2 CKMT1A
dgv45e203 Chr15:43542120 - 43732292 on Build GRCh38 Gain+Loss STRC CKMT1B PPIP5K1 CATSPER2 STRCP1 CKMT1A
esv2421427 Chr15:43592920 - 43696355 on Build GRCh38 Deletion STRC CKMT1B CATSPER2 CKMT1A
dgv2583n100 Chr15:43553212 - 43698816 on Build GRCh38 Loss STRC CKMT1B PPIP5K1 CATSPER2 CKMT1A
nsv1039949 Chr15:43539681 - 43700448 on Build GRCh38 Gain STRC CKMT1B PPIP5K1 CATSPER2 STRCP1 CKMT1A
nsv974568 Chr15:43559147 - 43618896 on Build GRCh38 Duplication STRC CKMT1B PPIP5K1
esv3636291 Chr15:43598985 - 43609178 on Build GRCh38 Loss STRC CKMT1B
nsv524910 Chr15:43544280 - 43647444 on Build GRCh38 Loss STRC CKMT1B PPIP5K1 CATSPER2

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