A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17529847



Internal ID21854204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241566688..241570283hg38UCSC Ensembl
chr2:242506103..242509698hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383596
hg193596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5988356
Supporting Variants
Samples
Known GenesBOK
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17529847
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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