A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17181848



Internal ID21629357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125847077..125847077hg38UCSC Ensembl
chr6:126168223..126168223hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5680741
Supporting Variants
Samples
Known GenesNCOA7
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)nssv17181848
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