A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699025



Internal ID122691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81252896..81252947hg38UCSC Ensembl
chr14:81719240..81719291hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560194
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699025
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005657


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