A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17733549



Internal ID157215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62166658..62170481hg38UCSC Ensembl
chr20:60741714..60745537hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg383824
hg193824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518168
Supporting Variants
Samples
Known GenesSS18L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17733549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001718


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