A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423320



Internal ID202341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20196391..20196442hg38UCSC Ensembl
chr14:20664550..20664601hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695254
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423320
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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