A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691416



Internal ID15081382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:20148988..20151497hg38UCSC Ensembl
Innerchr13:20723127..20725636hg19UCSC Ensembl
Innerchr13:19621127..19623636hg18UCSC Ensembl
Innerchr13:19621127..19623636hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg382510
hg192510
hg182510
hg172510
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516427
Supporting Variants
Samples
Known GenesGJA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691416
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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