A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527859



Internal ID303940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41982769..41984266hg38UCSC Ensembl
chr19:42486921..42488418hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381498
hg191498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725094
Samples
Known GenesATP1A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527859
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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