A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596939



Internal ID16384348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:5140007..5140666hg38UCSC Ensembl
Innerchr5:5140120..5140779hg19UCSC Ensembl
Innerchr5:5193120..5193779hg18UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38660
hg19660
hg18660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023694
Samples
Known GenesADAMTS16
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596939
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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