A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933719



Internal ID16227675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238239971..238241307hg38UCSC Ensembl
Innerchr2:239148612..239149948hg19UCSC Ensembl
Innerchr2:238813351..238814687hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381337
hg191337
hg181337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584766
Supporting Variants
Samples
Known GenesHES6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv933719
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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