A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246073



Internal ID21693582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:22354630..22354630hg38UCSC Ensembl
chr10:22643559..22643559hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722440
Supporting Variants
Samples
Known GenesSPAG6
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)nssv17246073
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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