A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013745



Internal ID76842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66573624..66573675hg38UCSC Ensembl
chr8:67485859..67485910hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5407746
Supporting Variants
Samples
Known GenesMYBL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013745
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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