A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16983889



Internal ID56639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79402907..80289022hg38UCSC Ensembl
chr6:80112624..80998739hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38886116
hg19886116
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5554232
Supporting Variants
Samples
Known GenesBCKDHB, C6orf7, ELOVL4, LCA5, RNY4, SH3BGRL2, TTK
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16983889
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000156


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