A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928807



Internal ID19917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241563809..241564532hg38UCSC Ensembl
chr2:242503224..242503947hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443471
Supporting Variants
Samples
Known GenesBOK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928807
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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