A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689300



Internal ID21715621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110005960..110005960hg38UCSC Ensembl
chr1:110548582..110548582hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177510, nssv17206658
Samples
Known GenesAHCYL1
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)nsv5689300
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