A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596392



Internal ID16037115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:186085652..186335850hg38UCSC Ensembl
Innerchr4:187006806..187257004hg19UCSC Ensembl
Innerchr4:187243800..187493998hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38250199
hg19250199
hg18250199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152988
SamplesHGDP00563
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)nsv596392
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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