A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517941



Internal ID294342
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 StatusM
Merged Variants
Supporting Variantsnssv17720296
Samples
Known GenesATP8B3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517941
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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