A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723409



Internal ID147075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40462259..40465021hg38UCSC Ensembl
chr19:40968166..40970928hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382763
hg192763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532150
Supporting Variants
Samples
Known GenesBLVRB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723409
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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