A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5408857



Internal ID188180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86737586..86737637hg38UCSC Ensembl
chr8:87749814..87749865hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013512
Samples
Known GenesCNGB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5408857
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer