A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584458



Internal ID16371867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216773162..216792379hg38UCSC Ensembl
Innerchr2:217637885..217657102hg19UCSC Ensembl
Innerchr2:217346130..217365347hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3819218
hg1919218
hg1819218
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150824
SamplesHGDP01023
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584458
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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