A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718570



Internal ID21744891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:57876282..57876282hg38UCSC Ensembl
chr1:58341954..58341954hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234216, nssv17250648
Samples
Known GenesDAB1
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)nsv5718570
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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