A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596637



Internal ID16384046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:467509..472407hg38UCSC Ensembl
Innerchr5:467624..472522hg19UCSC Ensembl
Innerchr5:520624..525522hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384899
hg194899
hg184899
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9483n54
Supporting Variantsnssv1021152, nssv1021153, nssv1021151, nssv1021158, nssv1021160, nssv1021154, nssv1021157, nssv1021155, nssv1021159, nssv1021156
Samples
Known GenesPP7080
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596637
Frequency
Sample Size17421
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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