A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv933610



Internal ID16227566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230319071..230376561hg38UCSC Ensembl
Innerchr2:231183786..231241276hg19UCSC Ensembl
Innerchr2:230892030..230949520hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3857491
hg1957491
hg1857491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584670
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)nssv933610
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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