A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721164



Internal ID144830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8561353..8561420hg38UCSC Ensembl
chr19:8626237..8626304hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533410
Supporting Variants
Samples
Known GenesMYO1F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721164
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer