A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722020



Internal ID145686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18345132..18347799hg38UCSC Ensembl
chr19:18455942..18458609hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382668
hg192668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528750
Supporting Variants
Samples
Known GenesPGPEP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722020
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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