A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400480



Internal ID22458350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45841969..45842082hg38UCSC Ensembl
chr22:46237849..46237962hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952831
Supporting Variants
Samples
Known GenesATXN10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400480
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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