A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590145



Internal ID16030868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:41918514..42139904hg38UCSC Ensembl
Innerchr3:41960006..42181396hg19UCSC Ensembl
Innerchr3:41935010..42156400hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38221391
hg19221391
hg18221391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8295n54
Supporting Variantsnssv1151766
SamplesHGDP01340
Known GenesTRAK1, ULK4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590145
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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