A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583594



Internal ID16371003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167604651..167741476hg38UCSC Ensembl
Innerchr2:168461161..168597986hg19UCSC Ensembl
Innerchr2:168169407..168306232hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38136826
hg19136826
hg18136826
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925273
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583594
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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