A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729759



Internal ID21756080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157553731..157553731hg38UCSC Ensembl
chr7:157346425..157346425hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38456
hg19456
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243706
Samples
Known GenesPTPRN2
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)nsv5729759
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