A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687406



Internal ID15424058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43845437..43851865hg38UCSC Ensembl
Innerchr2:44072576..44079004hg19UCSC Ensembl
Innerchr2:43926080..43932508hg18UCSC Ensembl
Innerchr2:43984227..43990655hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386429
hg196429
hg186429
hg176429
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519633
Supporting Variants
Samples
Known GenesABCG8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687406
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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