A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730840



Internal ID21757161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48947592..48947592hg38UCSC Ensembl
chr13:49521728..49521728hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382570
hg192570
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249927, nssv17251907
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)nsv5730840
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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