A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596401



Internal ID16383810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:186151229..186445495hg38UCSC Ensembl
Innerchr4:187072383..187366649hg19UCSC Ensembl
Innerchr4:187309377..187603643hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38294267
hg19294267
hg18294267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1019571
Samples
Known GenesCYP4V2, F11, F11-AS1, FAM149A, FLJ38576, KLKB1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596401
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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