A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17528675



Internal ID21853032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:164725116..164725116hg38UCSC Ensembl
chr2:165581626..165581626hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6055592
Supporting Variants
Samples
Known GenesCOBLL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17528675
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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