A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242658



Internal ID21690167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107708066..107708066hg38UCSC Ensembl
chr12:108101843..108101843hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg382543
hg192543
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725084
Supporting Variants
Samples
Known GenesPWP1
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)nssv17242658
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