A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426804



Internal ID205721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49318140..49318140hg38UCSC Ensembl
chr14:49784858..49784858hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696638
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426804
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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