A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516540



Internal ID292994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:84859097..84903695hg38UCSC Ensembl
chr15:85402328..85446926hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg3844599
hg1944599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17702218
Samples
Known GenesALPK3, SLC28A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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