A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707445



Internal ID131111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52529072..52984736hg38UCSC Ensembl
chr16:52562984..53018648hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38455665
hg19455665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145875
Supporting Variants
Samples
Known GenesCASC16, TOX3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707445
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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