A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686486



Internal ID110152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28497278..28497448hg38UCSC Ensembl
chr13:29071415..29071585hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505218
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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