A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101527



Internal ID21285193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48931537..48936337hg38UCSC Ensembl
Innerchr19:49434794..49439594hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384801
hg194801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116944
Supporting Variants
Samplessample370
Known GenesDHDH
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101527
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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