A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572458



Internal ID16013181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:46385922..46500451hg19UCSC Ensembl
Innerchr16:44943423..45057952hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg19114530
hg18114530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5101n54
Supporting Variantsnssv856497, nssv856514, nssv856509, nssv856510, nssv856498, nssv856513, nssv856505, nssv856502, nssv856503, nssv856512, nssv856506, nssv856495, nssv856507, nssv856516, nssv856501, nssv856517, nssv856494, nssv856499, nssv856508, nssv856493, nssv856500, nssv856504, nssv856511, nssv856496, nssv856515
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572458
Frequency
Sample Size17421
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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