A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721538



Internal ID21747859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126456528..126456528hg38UCSC Ensembl
chr9:129218807..129218807hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg386015
hg196015
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251372, nssv17237801
Samples
Known GenesMVB12B
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)nsv5721538
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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