A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694804



Internal ID118470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48154367..48154418hg38UCSC Ensembl
chr14:48623570..48623621hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425831
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694804
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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