A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699526



Internal ID123192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93559746..93561543hg38UCSC Ensembl
chr14:94026092..94027889hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381798
hg191798
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5558114
Supporting Variants
Samples
Known GenesUNC79
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699526
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.001249


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