A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv991256



Internal ID16285212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9366693..9487015hg38UCSC Ensembl
Innerchr4:9368419..9488662hg19UCSC Ensembl
Innerchr4:8977517..9097760hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38120323
hg19120244
hg18120244
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593647
Supporting Variants
Samples
Known GenesDEFB131, LOC650293, USP17L6P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv991256
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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