A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248260



Internal ID21695769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151409211..151409211hg38UCSC Ensembl
chr4:152330363..152330363hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg386006
hg196006
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721605
Supporting Variants
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)nssv17248260
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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