A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717613



Internal ID21743934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56864517..56864517hg38UCSC Ensembl
chr6:56729315..56729315hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381021
hg191021
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252678, nssv17248805
Samples
Known GenesDST
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)nsv5717613
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