A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3565632



Internal ID22434348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68217891..68217891hg38UCSC Ensembl
chr8:69130126..69130126hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342403, nssv14342402
SamplesNA19239, NA19240
Known GenesPREX2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3565632
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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