A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362945



Internal ID22281578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130888741..130888741hg38UCSC Ensembl
chr11:130758636..130758636hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381605
hg191605
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559112
Supporting Variants
SamplesNA19239
Known GenesSNX19
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)nssv14362945
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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