A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846595



Internal ID22030238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103760109..103760109hg38UCSC Ensembl
chr14:104226446..104226446hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241765
Supporting Variants
Samples
Known GenesPPP1R13B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846595
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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