A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722980



Internal ID21749301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67513433..67513433hg38UCSC Ensembl
chr5:66809261..66809261hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg381980
hg191980
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235711
Samples
Known Genes
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)nsv5722980
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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