A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561134



Internal ID22429926
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282435, nssv14282434, nssv14282433
SamplesHG00512, HG00732, HG00514
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)nsv3561134
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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