A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17249290



Internal ID21696799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:68191449..68191449hg38UCSC Ensembl
chr15:68483787..68483787hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718165
Supporting Variants
Samples
Known GenesCALML4
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)nssv17249290
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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