A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591390



Internal ID16032113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119665316..119740004hg38UCSC Ensembl
Innerchr3:119384163..119458851hg19UCSC Ensembl
Innerchr3:120866853..120941541hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3874689
hg1974689
hg1874689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152537
SamplesHGDP00552
Known GenesCOX17, MAATS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591390
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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