A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17230293



Internal ID21677802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176347341..176347341hg38UCSC Ensembl
chr2:177212069..177212069hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5683225
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)nssv17230293
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