A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584666



Internal ID16025389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230185999..230241906hg38UCSC Ensembl
Innerchr2:231050715..231106621hg19UCSC Ensembl
Innerchr2:230758959..230814865hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3855908
hg1955907
hg1855907
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933606
Samples
Known GenesSP110, SP140
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584666
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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