A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700947



Internal ID124613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:59230443..59230498hg38UCSC Ensembl
chr15:59522642..59522697hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527274
Supporting Variants
Samples
Known GenesMYO1E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700947
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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