A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920182



Internal ID14237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158405857..158407902hg38UCSC Ensembl
chr2:159262369..159264414hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg382046
hg192046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443150
Supporting Variants
Samples
Known GenesCCDC148
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920182
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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