A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243645



Internal ID21691154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36091353..36091353hg38UCSC Ensembl
chr22:36487401..36487401hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722321
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)nssv17243645
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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