A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933609



Internal ID16227565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230318606..230393435hg38UCSC Ensembl
Innerchr2:231183321..231258150hg19UCSC Ensembl
Innerchr2:230891565..230966394hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3874830
hg1974830
hg1874830
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584669
Supporting Variants
Samples
Known GenesSP140L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv933609
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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