A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516427



Internal ID15097034
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691416, nssv668305
Samples
Known GenesGJA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516427
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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