A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528848



Internal ID15109455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54531168..54550439hg38UCSC Ensembl
Innerchr2:54758305..54777576hg19UCSC Ensembl
Innerchr2:54611809..54631080hg18UCSC Ensembl
Innerchr2:54669956..54689227hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3819272
hg1919272
hg1819272
hg1719272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705527
Samples
Known GenesSPTBN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528848
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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