A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5394541



Internal ID173970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16409823..16409874hg38UCSC Ensembl
chr6:16410054..16410105hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981062
Samples
Known GenesATXN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5394541
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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