A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14354445



Internal ID22209305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:110417995..110417995hg38UCSC Ensembl
chr10:112177753..112177753hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg381116
hg191116
Variant TypeCNV line1 insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3559124
Supporting Variants
SamplesHG00732
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)nssv14354445
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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