A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686520



Internal ID110186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29130973..29134046hg38UCSC Ensembl
chr13:29705110..29708183hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383074
hg193074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507545
Supporting Variants
Samples
Known GenesMTUS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686520
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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