A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5554232



Internal ID327428
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 StatusM
Merged Variants
Supporting Variantsnssv16983889
Samples
Known GenesBCKDHB, C6orf7, ELOVL4, LCA5, RNY4, SH3BGRL2, TTK
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5554232
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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