A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600729



Internal ID16041452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181148250..181180883hg38UCSC Ensembl
Innerchr5:180575250..180607883hg19UCSC Ensembl
Innerchr5:180507856..180540489hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3832634
hg1932634
hg1832634
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1047548
Samples
Known GenesOR2V2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600729
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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