A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593022



Internal ID16380431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195616172..195779476hg38UCSC Ensembl
Innerchr3:195343043..195506347hg19UCSC Ensembl
Innerchr3:196824332..196991126hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38163305
hg19163305
hg18166795
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv986807
Samples
Known GenesMIR570, MUC20, MUC4, SDHAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593022
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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