A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17731263



Internal ID154929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16704017..17308202hg38UCSC Ensembl
chr20:16684662..17288847hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38604186
hg19604186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530660
Supporting Variants
Samples
Known GenesOTOR, PCSK2, SNRPB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17731263
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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