A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728699



Internal ID21755020
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 StatusM
Merged Variants
Supporting Variantsnssv17238248
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)nsv5728699
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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