A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584670



Internal ID16372079
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 StatusM
Merged Variantsdgv7334n54
Supporting Variantsnssv933610
Samples
Known GenesSP140L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584670
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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