A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680783



Internal ID15070749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143551386..143560999hg38UCSC Ensembl
Innerchr8:144633556..144643169hg19UCSC Ensembl
Innerchr8:144704699..144714312hg18UCSC Ensembl
Innerchr8:144704699..144714312hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389614
hg199614
hg189614
hg179614
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516210
Supporting Variants
Samples
Known GenesGSDMD
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680783
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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