A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565307



Internal ID22434028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67557945..67557945hg38UCSC Ensembl
chr8:68470180..68470180hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38495
hg19495
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342373
SamplesHG00512
Known GenesCPA6
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)nsv3565307
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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