A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691114



Internal ID15081080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71115426..71118631hg38UCSC Ensembl
Innerchr2:71342556..71345761hg19UCSC Ensembl
Innerchr2:71196064..71199269hg18UCSC Ensembl
Innerchr2:71254211..71257416hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg383206
hg193206
hg183206
hg173206
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517762
Supporting Variants
Samples
Known GenesMCEE
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691114
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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