Product Details

Assay Reference Genome
Location

Chr.11:1996138 on build GRCh38
Cytoband
11p15.5
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
283120
Gene Symbol
H19
Gene Name
H19, imprinted maternally expressed transcript (non-protein coding)
Gene Aliases
ASM, ASM1, BWS, D11S813E, LINC00008, NCRNA00008, WT2
Location
Chr.11:1995176-2001466 on build GRCh38
Assay Gene Location
Overlaps Intron 4 - Exon 4
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
H19 NR_002196.2
NR_131223.1
NR_131224.1
AK056774.1
AK092486.1
AK123560.1
AK311497.1
BE730693.1
CN424819.1
Entrez Gene ID
103344718
Gene Symbol
HOTS
Gene Name
H19 opposite tumor suppressor
Gene Aliases
Location
Chr.11:1992408-1996294 on build GRCh38
Assay Gene Location
Within Exon 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
HOTS NM_001293171.2 1 3731 NP_001280100.1
Entrez Gene ID
6150
Gene Symbol
MRPL23
Gene Name
mitochondrial ribosomal protein L23
Gene Aliases
L23MRP, RPL23, RPL23L
Location
Chr.11:1947272-2013176 on build GRCh38
Assay Gene Location
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
MRPL23

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv522320 Chr11:1835882 - 1996938 on Build GRCh38 Loss HOTS MRPL23 TNNT3 MIR675 SNORD131 LSP1 MIR4298 MIR7847 TNNI2 SYT8 LINC01150 LINC01219 H19 MRPL23-AS1
nsv1047474 Chr11:1803515 - 2043381 on Build GRCh38 Gain HOTS MRPL23 TNNT3 MIR675 SNORD131 LSP1 MIR4298 MIR7847 TNNI2 SYT8 LINC01150 LINC01219 H19 MRPL23-AS1
dgv1016n100 Chr11:1946041 - 2043381 on Build GRCh38 Gain HOTS MRPL23 MIR675 LINC01219 SNORD131 H19 MRPL23-AS1
nsv553064 Chr11:1943082 - 2001669 on Build GRCh38 Loss HOTS MRPL23 MIR675 LINC01219 SNORD131 H19 MRPL23-AS1
nsv469926 Chr11:1813024 - 2036416 on Build GRCh38 Loss HOTS MRPL23 TNNT3 MIR675 SNORD131 LSP1 MIR4298 MIR7847 TNNI2 SYT8 LINC01150 LINC01219 H19 MRPL23-AS1
nsv951283 Chr11:1913571 - 2040070 on Build GRCh38 Deletion HOTS MRPL23 TNNT3 MIR675 LINC01219 SNORD131 H19 MRPL23-AS1
esv29980 Chr11:1820597 - 2097889 on Build GRCh38 Loss HOTS MRPL23 TNNT3 MIR675 SNORD131 LSP1 MIR4298 MIR7847 TNNI2 SYT8 LINC01150 LINC01219 H19 MRPL23-AS1
nsv553047 Chr11:1733170 - 2418537 on Build GRCh38 Gain C11orf21 HOTS IFITM10 MIR4686 MIR483 CTSD ASCL2 IGF2 MIR7847 CD81 CD81-AS1 MRPL23 TNNT3 MIR675 INS-IGF2 SNORD131 LSP1 MIR4298 IGF2-AS TSPAN32 TNNI2 TSSC4 SYT8 LINC01150 INS TRPM5 LINC01219 TH H19 MRPL23-AS1

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