A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597765



Internal ID16385174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:31692769..31787274hg38UCSC Ensembl
Innerchr5:31692876..31787381hg19UCSC Ensembl
Innerchr5:31728633..31823138hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3894506
hg1994506
hg1894506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1028856
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597765
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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