A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252564



Internal ID21700073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35482953..35482953hg38UCSC Ensembl
chr11:35504501..35504501hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg385908
hg195908
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717377
Supporting Variants
Samples
Known GenesPAMR1
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)nssv17252564
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