A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543365



Internal ID317626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:93809441..93809441hg38UCSC Ensembl
chr8:94821669..94821669hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014505
Samples
Known GenesTMEM67
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543365
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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