A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590179



Internal ID16030902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46687169..46748907hg38UCSC Ensembl
Innerchr3:46728659..46790397hg19UCSC Ensembl
Innerchr3:46703663..46765401hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3861739
hg1961739
hg1861739
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv962484
Samples
Known GenesALS2CL, PRSS45, PRSS46, PRSS50, TMIE
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590179
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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