A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723398



Internal ID147064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40355421..40358416hg38UCSC Ensembl
chr19:40861328..40864323hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382996
hg192996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5523939
Supporting Variants
Samples
Known GenesPLD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723398
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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