A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533044



Internal ID308942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68221745..68222465hg38UCSC Ensembl
chr15:68514083..68514803hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38721
hg19721
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17703891
Samples
Known GenesCLN6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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