A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565294



Internal ID22434015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58703418..58703418hg38UCSC Ensembl
chr8:59615977..59615977hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14341563, nssv14341562
SamplesNA19238, NA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3565294
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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