A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17602454



Internal ID21794501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:99695943..99695943hg38UCSC Ensembl
chr14:100162280..100162280hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381068
hg191068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6096349
Supporting Variants
Samples
Known GenesCYP46A1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17602454
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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