A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677245



Internal ID21703566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50885389..50885389hg38UCSC Ensembl
chr7:50953086..50953086hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17182810
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)nsv5677245
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