A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14308229



Internal ID22265397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:149094481..149094481hg38UCSC Ensembl
chr3:148812268..148812268hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38400
hg19400
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562646
Supporting Variants
SamplesNA19238
Known GenesHLTF-AS1
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)nssv14308229
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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