A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591395



Internal ID16032118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121252053..121782223hg38UCSC Ensembl
Innerchr3:120970900..121501070hg19UCSC Ensembl
Innerchr3:122453590..122983760hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38530171
hg19530171
hg18530171
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8524n54
Supporting Variantsnssv971760
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)nsv591395
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer