A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582813



Internal ID16370222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:122402797..122665721hg38UCSC Ensembl
Innerchr2:123160373..123423297hg19UCSC Ensembl
Innerchr2:122876843..123139767hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38262925
hg19262925
hg18262925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916477
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582813
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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