A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584244



Internal ID16371653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:205382726..205513668hg38UCSC Ensembl
Innerchr2:206247450..206378392hg19UCSC Ensembl
Innerchr2:205955695..206086637hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38130943
hg19130943
hg18130943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv930606
Samples
Known GenesPARD3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584244
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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