A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596550



Internal ID16383959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189310262..189835327hg38UCSC Ensembl
Innerchr4:190231416..190756482hg19UCSC Ensembl
Innerchr4:190468410..190993476hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38525066
hg19525067
hg18525067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153272
SamplesHGDP00057
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596550
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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