A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847808



Internal ID22031451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68477615..68477615hg38UCSC Ensembl
chr14:68944332..68944332hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6258997
Supporting Variants
Samples
Known GenesRAD51B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847808
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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