A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417366



Internal ID196564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:29266900..29266951hg38UCSC Ensembl
chr14:29736106..29736157hg19UCSC Ensembl
Cytoband14q12
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 Variantsnssv17695465
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417366
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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