A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600500



Internal ID16041223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179232690..179286711hg38UCSC Ensembl
Innerchr5:178659691..178713712hg19UCSC Ensembl
Innerchr5:178592297..178646318hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3854022
hg1954022
hg1854022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10209n54
Supporting Variantsnssv1046315
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600500
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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