A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17215809



Internal ID21663318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:115102660..115102660hg38UCSC Ensembl
chr3:114821507..114821507hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693880
Supporting Variants
Samples
Known GenesZBTB20
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)nssv17215809
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