A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596390



Internal ID16037113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:186008492..186208841hg38UCSC Ensembl
Innerchr4:186929646..187129995hg19UCSC Ensembl
Innerchr4:187166640..187366989hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38200350
hg19200350
hg18200350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9426n54
Supporting Variantsnssv1152986
SamplesHGDP00191
Known GenesCYP4V2, FAM149A, FLJ38576, TLR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596390
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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