A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730945



Internal ID21757266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:43217294..43217294hg38UCSC Ensembl
chr9:69704636..69704636hg19UCSC Ensembl
Cytoband9q21.11
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 Variantsnssv17250320
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)nsv5730945
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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