A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723396



Internal ID147062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40350172..40352274hg38UCSC Ensembl
chr19:40856079..40858181hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382103
hg192103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527101
Supporting Variants
Samples
Known GenesPLD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723396
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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