A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421967



Internal ID201022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90052644..90052695hg38UCSC Ensembl
chr14:90518988..90519039hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17697171
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421967
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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