A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565370



Internal ID22434091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:32463889..32463889hg38UCSC Ensembl
chr9:32463887..32463887hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14347451, nssv14347450, nssv14347454, nssv14347447, nssv14347455, nssv14347452, nssv14347448, nssv14347453, nssv14347449
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDDX58
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)nsv3565370
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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