A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581191



Internal ID16368600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24490840..24499569hg38UCSC Ensembl
Innerchr2:24713709..24722438hg19UCSC Ensembl
Innerchr2:24567213..24575942hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg388730
hg198730
hg188730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904491
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581191
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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