A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv991255



Internal ID16285211
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 StatusS
Merged Variantsnsv593646
Supporting Variants
Samples
Known GenesDEFB131, USP17L6P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv991255
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer