A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596948



Internal ID16037671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6699111..6714601hg38UCSC Ensembl
Innerchr5:6699224..6714714hg19UCSC Ensembl
Innerchr5:6752224..6767714hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3815491
hg1915491
hg1815491
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023701
Samples
Known GenesLOC100505625
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596948
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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