A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597300



Internal ID16384709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:16179085..16180006hg38UCSC Ensembl
Innerchr5:16179194..16180115hg19UCSC Ensembl
Innerchr5:16232194..16233115hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38922
hg19922
hg18922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9620n54
Supporting Variantsnssv1026278, nssv1026279, nssv1026277
Samples
Known GenesMARCH11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597300
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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