A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17846576



Internal ID22030219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100047145..100047145hg38UCSC Ensembl
chr14:100513482..100513482hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6241744
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17846576
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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