A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723939



Internal ID147605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48935497..48937808hg38UCSC Ensembl
chr19:49438754..49441065hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg382312
hg192312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527553
Supporting Variants
Samples
Known GenesDHDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723939
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004873


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