A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17185064



Internal ID21632573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107256778..107256778hg38UCSC Ensembl
chr8:108269006..108269006hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5705968
Supporting Variants
Samples
Known GenesANGPT1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17185064
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