A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700412



Internal ID124078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:33289601..33549410hg38UCSC Ensembl
chr15:33581802..33841611hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38259810
hg19259810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506179
Supporting Variants
Samples
Known GenesRYR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700412
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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