A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591668



Internal ID16032391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129403449..129490335hg38UCSC Ensembl
Innerchr3:129122292..129209178hg19UCSC Ensembl
Innerchr3:130604982..130691868hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3886887
hg1986887
hg1886887
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv973174
Samples
Known GenesEFCAB12, IFT122, MBD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591668
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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