A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715285



Internal ID21741606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148859056..148859056hg38UCSC Ensembl
chr5:148238619..148238619hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244049, nssv17245461
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5715285
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer