A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846477



Internal ID22030120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:48777195..48777195hg38UCSC Ensembl
chr15:49069392..49069392hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6242040
Supporting Variants
Samples
Known GenesCEP152
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846477
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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