A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv688028



Internal ID15424680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9808275..9814469hg38UCSC Ensembl
Innerchr2:9948404..9954598hg19UCSC Ensembl
Innerchr2:9865855..9872049hg18UCSC Ensembl
Innerchr2:9899002..9905196hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg386195
hg196195
hg186195
hg176195
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517701
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv688028
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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