A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596553



Internal ID16383962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189492254..189789099hg38UCSC Ensembl
Innerchr4:190413408..190710253hg19UCSC Ensembl
Innerchr4:190650402..190947247hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38296846
hg19296846
hg18296846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9464n54
Supporting Variantsnssv1020871
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596553
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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