A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14302620



Internal ID22312139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:10743407..10743407hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg382911
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562105
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14302620
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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