A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517048



Internal ID293481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29962027..29962106hg38UCSC Ensembl
chr16:29973348..29973427hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17707645
Samples
Known GenesTMEM219
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517048
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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