A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597299



Internal ID16384708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:16179085..16179950hg38UCSC Ensembl
Innerchr5:16179194..16180059hg19UCSC Ensembl
Innerchr5:16232194..16233059hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38866
hg19866
hg18866
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1026274, nssv1026276, nssv1026275, nssv1026273
Samples
Known GenesMARCH11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597299
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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