A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519633



Internal ID15446926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43844604..43851865hg38UCSC Ensembl
Innerchr2:44071743..44079004hg19UCSC Ensembl
Innerchr2:43925247..43932508hg18UCSC Ensembl
Innerchr2:43983394..43990655hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg387262
hg197262
hg187262
hg177262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv657255, nssv671713, nssv687406, nssv683618, nssv658823, nssv682518, nssv663002, nssv698339
Samples
Known GenesABCG8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519633
Frequency
Sample Size2026
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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