A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17206522



Internal ID21654031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43328653..43328653hg38UCSC Ensembl
chr1:43794324..43794324hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679137
Supporting Variants
Samples
Known Genes
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)nssv17206522
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