A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238248



Internal ID21685757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49415367..49415367hg38UCSC Ensembl
chr20:48031904..48031904hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728699
Supporting Variants
Samples
Known GenesKCNB1
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)nssv17238248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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