A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600499



Internal ID16041222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179218309..179279161hg38UCSC Ensembl
Innerchr5:178645310..178706162hg19UCSC Ensembl
Innerchr5:178577916..178638768hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3860853
hg1960853
hg1860853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10209n54
Supporting Variantsnssv1046314
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600499
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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