A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398992



Internal ID178386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30171155..30171206hg38UCSC Ensembl
chr8:30028671..30028722hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009286
Samples
Known GenesDCTN6, MIR548O2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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