A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516742



Internal ID293190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13052422..13053813hg38UCSC Ensembl
chr16:13146279..13147670hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381392
hg191392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707924
Samples
Known GenesSHISA9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516742
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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