A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593424



Internal ID16380833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:2535901..2537514hg38UCSC Ensembl
Innerchr4:2537628..2539241hg19UCSC Ensembl
Innerchr4:2507426..2509039hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381614
hg191614
hg181614
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv989092, nssv989094, nssv989093
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593424
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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