A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv904491



Internal ID16198447
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 StatusS
Merged Variantsnsv581191
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv904491
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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