A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695978



Internal ID15432630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20618698..20619556hg38UCSC Ensembl
Innerchr2:20818458..20819316hg19UCSC Ensembl
Innerchr2:20681939..20682797hg18UCSC Ensembl
Innerchr2:20740086..20740944hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38859
hg19859
hg18859
hg17859
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)nssv695978
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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