A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561206



Internal ID22429987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:31199778..31199778hg38UCSC Ensembl
chr19:31690684..31690684hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14285889, nssv14285892, nssv14285890, nssv14285887, nssv14285894, nssv14285888, nssv14285893, nssv14285891
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561206
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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