A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695357



Internal ID119023
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 StatusS
Merged Variantsnsv5415131
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695357
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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