A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv820489



Internal ID16114445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113207438..113211022hg38UCSC Ensembl
Innerchr13:113861752..113865336hg19UCSC Ensembl
Innerchr13:112909753..112913337hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg383585
hg193585
hg183585
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv563303
Supporting Variants
Samples
Known GenesCUL4A, PCID2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv820489
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