A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514147



Internal ID290648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:65534874..65544874hg38UCSC Ensembl
chr15:65827212..65837212hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704296
Samples
Known GenesPTPLAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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