A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717377



Internal ID21743698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35482953..35482953hg38UCSC Ensembl
chr11:35504501..35504501hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252564, nssv17234705
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)nsv5717377
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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