A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730143



Internal ID21756464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59915947..59915947hg38UCSC Ensembl
chr1:60381619..60381619hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg382066
hg192066
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17239177
Samples
Known GenesCYP2J2
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)nsv5730143
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