A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911363



Internal ID8340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28862506..28864408hg38UCSC Ensembl
chr2:29085372..29087274hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg381903
hg191903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445204
Supporting Variants
Samples
Known GenesTRMT61B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911363
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001405


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