A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590259



Internal ID16377668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50370967..50374388hg38UCSC Ensembl
Innerchr3:50408398..50411819hg19UCSC Ensembl
Innerchr3:50383402..50386823hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383422
hg193422
hg183422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv963024
Samples
Known GenesCACNA2D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590259
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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