A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726687



Internal ID21753008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101570833..101570833hg38UCSC Ensembl
chr13:102223184..102223184hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg381066
hg191066
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238771, nssv17250190
Samples
Known GenesITGBL1
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)nsv5726687
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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