A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686518



Internal ID110184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29060833..29062128hg38UCSC Ensembl
chr13:29634970..29636265hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381296
hg191296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504876
Supporting Variants
Samples
Known GenesMTUS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686518
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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