A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687573



Internal ID111239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48042917..48042917hg38UCSC Ensembl
chr13:48617053..48617053hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548114
Supporting Variants
Samples
Known GenesNUDT15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687573
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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