A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589457



Internal ID16030180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4827274..4928648hg38UCSC Ensembl
Innerchr3:4868958..4970333hg19UCSC Ensembl
Innerchr3:4843958..4945333hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38101375
hg19101376
hg18101376
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152468
SamplesHGDP01302
Known GenesBHLHE40-AS1, ITPR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589457
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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