A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406778



Internal ID186115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67431750..67431801hg38UCSC Ensembl
chr8:68343985..68344036hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011824
Samples
Known GenesCPA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406778
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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