A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723296



Internal ID146962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38944802..38944853hg38UCSC Ensembl
chr19:39435442..39435493hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517425
Supporting Variants
Samples
Known GenesFBXO17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723296
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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