A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591396



Internal ID16032119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121252053..121838686hg38UCSC Ensembl
Innerchr3:120970900..121557533hg19UCSC Ensembl
Innerchr3:122453590..123040223hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38586634
hg19586634
hg18586634
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8524n54
Supporting Variantsnssv971761
Samples
Known GenesARGFX, EAF2, 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)nsv591396
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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