A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560466



Internal ID22429263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:63082393..63082393hg38UCSC Ensembl
chr15:63374592..63374592hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38394
hg19394
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14374769, nssv14374471, nssv14373113, nssv14379529, nssv14372595, nssv14373078, nssv14383124, nssv14390802
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)nsv3560466
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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