A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590193



Internal ID16030916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46755299..46809120hg38UCSC Ensembl
Innerchr3:46796789..46850610hg19UCSC Ensembl
Innerchr3:46771793..46825614hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3853822
hg1953822
hg1853822
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8304n54
Supporting Variantsnssv962570, nssv962571
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590193
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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