A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733558



Internal ID157224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62249692..62251526hg38UCSC Ensembl
chr20:60824748..60826582hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381835
hg191835
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526248
Supporting Variants
Samples
Known GenesOSBPL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733558
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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