A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244520



Internal ID21692029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:58048695..58048695hg38UCSC Ensembl
chr11:57816167..57816167hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg382882
hg192882
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728887
Supporting Variants
Samples
Known GenesOR9Q1
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)nssv17244520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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