A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5395219



Internal ID174643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79798191..79798230hg38UCSC Ensembl
chr8:80710426..80710465hg19UCSC Ensembl
Cytoband8q21.13
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 Variantsnssv17013304
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5395219
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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