A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562617



Internal ID335564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16471728..16475322hg38UCSC Ensembl
chr6:16471959..16475553hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg383595
hg193595
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981072
Samples
Known GenesATXN1
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562617
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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