A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582514



Internal ID16369923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98219499..98253451hg38UCSC Ensembl
Innerchr2:98835962..98869914hg19UCSC Ensembl
Innerchr2:98202394..98236346hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3833953
hg1933953
hg1833953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6974n54
Supporting Variantsnssv914144
Samples
Known GenesVWA3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582514
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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