A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517669



Internal ID15444962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98239034..98273498hg38UCSC Ensembl
Innerchr2:98855497..98889961hg19UCSC Ensembl
Innerchr2:98221929..98256393hg18UCSC Ensembl
Innerchr2:98314015..98348479hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3834465
hg1934465
hg1834465
hg1734465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv676112, nssv652771, nssv702053, nssv666946, nssv686841, nssv666827
Samples
Known GenesVWA3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517669
Frequency
Sample Size2026
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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