A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583531



Internal ID16370940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:163781948..163788895hg38UCSC Ensembl
Innerchr2:164638458..164645405hg19UCSC Ensembl
Innerchr2:164346704..164353651hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg386948
hg196948
hg186948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7147n54
Supporting Variantsnssv924948, nssv924946, nssv924947
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583531
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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