A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453550



Internal ID231670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134885263..134885332hg38UCSC Ensembl
chr2:135642833..135642902hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924255
Samples
Known GenesACMSD, CCNT2-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453550
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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