A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600296



Internal ID16387705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172902731..172923635hg38UCSC Ensembl
Innerchr5:172329734..172350638hg19UCSC Ensembl
Innerchr5:172262340..172283244hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3820905
hg1920905
hg1820905
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045488
Samples
Known GenesERGIC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600296
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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