A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16281701



Internal ID20490919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241561421..241561625hg38UCSC Ensembl
chr2:242500836..242501040hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4750015
Supporting Variants
Samples
Known GenesBOK
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16281701
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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