A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598349



Internal ID16385758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:63413803..63565369hg38UCSC Ensembl
Innerchr5:62709630..62861196hg19UCSC Ensembl
Innerchr5:62745386..62896952hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38151567
hg19151567
hg18151567
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153352
SamplesHGDP00556
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598349
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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