A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914443



Internal ID10381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70264489..70269499hg38UCSC Ensembl
chr2:70491621..70496631hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385011
hg195011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139894
Supporting Variants
Samples
Known GenesPCYOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914443
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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