A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721846



Internal ID21748167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118808186..118808186hg38UCSC Ensembl
chr1:119350809..119350809hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381413
hg191413
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249138, nssv17233661
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)nsv5721846
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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