A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727242



Internal ID21753563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69701695..69701695hg38UCSC Ensembl
chr8:70613930..70613930hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249165
Samples
Known GenesSLCO5A1
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)nsv5727242
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