A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583993



Internal ID16371402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:184131220..184451730hg38UCSC Ensembl
Innerchr2:184995947..185316457hg19UCSC Ensembl
Innerchr2:184704192..185024702hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38320511
hg19320511
hg18320511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv928209
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583993
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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