A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704873



Internal ID15441525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:75902744..75936691hg38UCSC Ensembl
Innerchr2:76129870..76163817hg19UCSC Ensembl
Innerchr2:75983378..76017325hg18UCSC Ensembl
Innerchr2:76041525..76075472hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3833948
hg1933948
hg1833948
hg1733948
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528298
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704873
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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