A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599176



Internal ID16386585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100911850..101439903hg38UCSC Ensembl
Innerchr5:100247554..100775607hg19UCSC Ensembl
Innerchr5:100275453..100803506hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38528054
hg19528054
hg18528054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153970
SamplesHGDP01030
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599176
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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