A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584457



Internal ID16371866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:216769091..216798245hg38UCSC Ensembl
Innerchr2:217633814..217662968hg19UCSC Ensembl
Innerchr2:217342059..217371213hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3829155
hg1929155
hg1829155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150823
SamplesHGDP00490
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584457
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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