A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3560765



Internal ID22429562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:79830913..79830913hg38UCSC Ensembl
chr16:79864810..79864810hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14378903, nssv14375886
SamplesNA19238, HG00513
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)nsv3560765
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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