A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482720



Internal ID260168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97715257..97718100hg38UCSC Ensembl
chr8:98727485..98730328hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg382844
hg192844
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014675
Samples
Known GenesMTDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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