A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452343



Internal ID230498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207304389..207309787hg38UCSC Ensembl
chr2:208169113..208174511hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385399
hg195399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924756
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452343
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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