A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517735



Internal ID294149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23643030..23645173hg38UCSC Ensembl
chr16:23654351..23656494hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg382144
hg192144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708009
Samples
Known GenesDCTN5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517735
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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