A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17732954



Internal ID156620
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 StatusS
Merged Variantsnsv5514119
Supporting Variants
Samples
Known GenesATP9A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17732954
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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