A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412105



Internal ID191409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107256778..107256819hg38UCSC Ensembl
chr8:108269006..108269047hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014409
Samples
Known GenesANGPT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412105
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