A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593646



Internal ID16381055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9366693..9451333hg38UCSC Ensembl
Innerchr4:9368419..9453059hg19UCSC Ensembl
Innerchr4:8977517..9062157hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3884641
hg1984641
hg1884641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv991255
Samples
Known GenesDEFB131, USP17L6P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593646
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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