A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv657255



Internal ID15393907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43844604..43845437hg38UCSC Ensembl
Innerchr2:44071743..44072576hg19UCSC Ensembl
Innerchr2:43925247..43926080hg18UCSC Ensembl
Innerchr2:43983394..43984227hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38834
hg19834
hg18834
hg17834
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)nssv657255
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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