A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591397



Internal ID16032120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121258536..121787035hg38UCSC Ensembl
Innerchr3:120977383..121505882hg19UCSC Ensembl
Innerchr3:122460073..122988572hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38528500
hg19528500
hg18528500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8524n54
Supporting Variantsnssv971762
Samples
Known GenesARGFX, FBXO40, GOLGB1, HCLS1, IQCB1, POLQ, STXBP5L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591397
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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