A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415131



Internal ID194392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21708810..21708861hg38UCSC Ensembl
chr14:22177033..22177084hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695357
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415131
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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