A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596847



Internal ID16384256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1178659..1180452hg38UCSC Ensembl
Innerchr5:1178774..1180567hg19UCSC Ensembl
Innerchr5:1231774..1233567hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381794
hg191794
hg181794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9532n54
Supporting Variantsnssv1022127, nssv1022119, nssv1022120, nssv1022118, nssv1022125, nssv1022124, nssv1022123, nssv1022122, nssv1022121, nssv1022126
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596847
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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