A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516948



Internal ID293387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51738160..51753810hg38UCSC Ensembl
chr20:50354699..50370349hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3815651
hg1915651
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732953
Samples
Known GenesATP9A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516948
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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