A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720296



Internal ID143962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1795036..1799483hg38UCSC Ensembl
chr19:1795035..1799482hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384448
hg194448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517941
Supporting Variants
Samples
Known GenesATP8B3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720296
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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