A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596510



Internal ID16037233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:188879332..189861873hg38UCSC Ensembl
Innerchr4:189800486..190783028hg19UCSC Ensembl
Innerchr4:190037480..191020022hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38982542
hg19982543
hg18982543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1020595
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596510
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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