A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213250



Internal ID22360256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:95080400..95080489hg38UCSC Ensembl
chr8:96092628..96092717hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9259n152
Supporting Variantsnssv14342820, nssv14342824, nssv14342823, nssv14342821, nssv14342822
SamplesNA19239, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213250
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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