A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718342



Internal ID21744663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11051505..11051505hg38UCSC Ensembl
chr1:11111562..11111562hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244287
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5718342
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