A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521475



Internal ID297770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:7909232..7926958hg38UCSC Ensembl
chr20:7889879..7907605hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3817727
hg1917727
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730699
Samples
Known GenesHAO1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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