A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282434



Internal ID22155993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78175229..78175229hg38UCSC Ensembl
chr17:76171310..76171310hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV sva insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3561134
Supporting Variants
SamplesHG00514
Known GenesTK1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282434
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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