A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583598



Internal ID16371007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:168405357..168441984hg38UCSC Ensembl
Innerchr2:169261867..169298494hg19UCSC Ensembl
Innerchr2:168970113..169006740hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3836628
hg1936628
hg1836628
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151329
SamplesHGDP00463
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583598
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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