A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702750



Internal ID126416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52255722..52255759hg38UCSC Ensembl
chr15:52547919..52547956hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557248
Supporting Variants
Samples
Known GenesMYO5C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702750
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001562


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