A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17236772



Internal ID21684281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2537680..2537680hg38UCSC Ensembl
chr20:2518326..2518326hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729028
Supporting Variants
Samples
Known GenesTMC2
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)nssv17236772
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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