A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699115



Internal ID21725436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32035184..32035184hg38UCSC Ensembl
chr8:31892700..31892700hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184225, nssv17218353
Samples
Known GenesNRG1, NRG1-IT1
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)nsv5699115
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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