A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453513



Internal ID231634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106143329..106143437hg38UCSC Ensembl
chr2:106759785..106759893hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916473
Samples
Known GenesUXS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453513
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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