A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422966



Internal ID201994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61637969..61638020hg38UCSC Ensembl
chr14:62104687..62104738hg19UCSC Ensembl
Cytoband14q23.2
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 Variantsnssv17696017
Samples
Known GenesFLJ22447
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422966
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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