A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691056



Internal ID21717377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154654483..154654483hg38UCSC Ensembl
chr1:154626959..154626959hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181851
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)nsv5691056
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