A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583593



Internal ID16371002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167545714..167596120hg38UCSC Ensembl
Innerchr2:168402224..168452630hg19UCSC Ensembl
Innerchr2:168110470..168160876hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3850407
hg1950407
hg1850407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925272
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583593
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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