A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17246172



Internal ID21693681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14627430..14627430hg38UCSC Ensembl
chr21:15999751..15999751hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729523
Supporting Variants
Samples
Known GenesLOC388813
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)nssv17246172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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