A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726222



Internal ID21752543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109804255..109804255hg38UCSC Ensembl
chr6:110125458..110125458hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38678
hg19678
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252842
Samples
Known GenesFIG4
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)nsv5726222
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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