A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600495



Internal ID16041218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179120566..179143913hg38UCSC Ensembl
Innerchr5:178547567..178570914hg19UCSC Ensembl
Innerchr5:178480173..178503520hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3823348
hg1923348
hg1823348
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1046310
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600495
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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