A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654759



Internal ID15391411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20618698..20628086hg38UCSC Ensembl
Innerchr2:20818458..20827846hg19UCSC Ensembl
Innerchr2:20681939..20691327hg18UCSC Ensembl
Innerchr2:20740086..20749474hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg389389
hg199389
hg189389
hg179389
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517472
Supporting Variants
Samples
Known GenesHS1BP3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv654759
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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