A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244684



Internal ID21692193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205921423..205921423hg38UCSC Ensembl
chr2:206786147..206786147hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381204
hg191204
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727270
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)nssv17244684
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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