A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499417



Internal ID276391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37972405..37972470hg38UCSC Ensembl
chr14:38441610..38441675hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696977
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499417
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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