A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17181046



Internal ID21628555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45521225..45521225hg38UCSC Ensembl
chr7:45560824..45560824hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693339
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)nssv17181046
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