A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17212989



Internal ID21660498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121460705..121460705hg38UCSC Ensembl
chr2:122218281..122218281hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690481
Supporting Variants
Samples
Known GenesCLASP1
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)nssv17212989
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