A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514119



Internal ID290621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51738799..51740066hg38UCSC Ensembl
chr20:50355338..50356605hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732954
Samples
Known GenesATP9A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514119
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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