Product Details

Assay Reference Genome
Location

Chr.11:1997058 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
Within Exon 2
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
H19 NR_002196.2 1 818
NR_131223.1 1 818
NR_131224.1
AK056774.1 2 562
AK092486.1
AK311497.1
AL546946.3 1 778
AL548405.3 1 778
CN424819.1
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
nsv1047474 Chr11:1803515 - 2043381 on Build GRCh38 Gain LINC01219 TNNT3 SYT8 HOTS LINC01150 MRPL23 MRPL23-AS1 H19 LSP1 MIR7847 MIR4298 SNORD131 TNNI2 MIR675
dgv1016n100 Chr11:1946041 - 2043381 on Build GRCh38 Gain LINC01219 HOTS SNORD131 MRPL23 MIR675 MRPL23-AS1 H19
nsv553064 Chr11:1943082 - 2001669 on Build GRCh38 Loss LINC01219 HOTS SNORD131 MRPL23 MIR675 MRPL23-AS1 H19
nsv469926 Chr11:1813024 - 2036416 on Build GRCh38 Loss LINC01219 TNNT3 SYT8 HOTS LINC01150 MRPL23 MRPL23-AS1 H19 LSP1 MIR7847 MIR4298 SNORD131 TNNI2 MIR675
nsv951283 Chr11:1913571 - 2040070 on Build GRCh38 Deletion LINC01219 TNNT3 HOTS SNORD131 MRPL23 MIR675 MRPL23-AS1 H19
esv29980 Chr11:1820597 - 2097889 on Build GRCh38 Loss LINC01219 TNNT3 SYT8 HOTS LINC01150 MRPL23 MRPL23-AS1 H19 LSP1 MIR7847 MIR4298 SNORD131 TNNI2 MIR675
nsv553047 Chr11:1733170 - 2418537 on Build GRCh38 Gain SYT8 TRPM5 HOTS LINC01150 MRPL23 MRPL23-AS1 H19 C11orf21 TSPAN32 LSP1 MIR7847 IFITM10 CD81 SNORD131 INS-IGF2 TNNI2 MIR4686 TH LINC01219 MIR483 TNNT3 CD81-AS1 IGF2 IGF2-AS CTSD TSSC4 INS MIR4298 ASCL2 MIR675

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