A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14099130



Internal ID21284364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6599389..6629728hg38UCSC Ensembl
Innerchr1:6659449..6689788hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3830340
hg1930340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113666
Supporting Variants
Samplessample360
Known GenesKLHL21, PHF13, THAP3
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14099130
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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