A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446298



Internal ID224622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241561418..241561724hg38UCSC Ensembl
chr2:242500833..242501139hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928806
Samples
Known GenesBOK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446298
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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