A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689112



Internal ID21715433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113868916..113868916hg38UCSC Ensembl
chr1:114411538..114411538hg19UCSC Ensembl
Cytoband1p13.2
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 Variantsnssv17206185, nssv17179159
Samples
Known GenesAP4B1-AS1, PTPN22
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)nsv5689112
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