A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596956



Internal ID16037679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6712921..6714601hg38UCSC Ensembl
Innerchr5:6713034..6714714hg19UCSC Ensembl
Innerchr5:6766034..6767714hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9554n54
Supporting Variantsnssv1023725, nssv1023719, nssv1023718, nssv1023717, nssv1023721, nssv1023722, nssv1023724, nssv1023726, nssv1023720, nssv1023723
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596956
Frequency
Sample Size17421
Observed Gain9
Observed Loss1
Observed Complex0
Frequencyn/a


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