A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv928441



Internal ID16222397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:193298362..194040918hg38UCSC Ensembl
Innerchr2:194163087..194905642hg19UCSC Ensembl
Innerchr2:193871332..194613887hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38742557
hg19742556
hg18742556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584076
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv928441
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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