A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596523



Internal ID16037246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189108728..190044201hg38UCSC Ensembl
Innerchr4:190029882..190965356hg19UCSC Ensembl
Innerchr4:190266876..191202350hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38935474
hg19935475
hg18935475
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9457n54
Supporting Variantsnssv1020616
Samples
Known GenesFRG1, FRG2, LOC100288255, LOC283788
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596523
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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