A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726697



Internal ID21753018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:208299233..208299233hg38UCSC Ensembl
chr1:208472578..208472578hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250179, nssv17237249
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)nsv5726697
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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