A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3529234



Internal ID22398627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134346390..134346449hg38UCSC Ensembl
chr8:135358633..135358692hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14344077, nssv14344078, nssv14344694, nssv14344076, nssv14344075, nssv14344074
SamplesNA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3529234
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer