A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3528309



Internal ID22397696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56845740..56845807hg38UCSC Ensembl
chr8:57758299..57758366hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9185n152
Supporting Variantsnssv14343305, nssv14343311, nssv14343309, nssv14343310, nssv14343307, nssv14343306, nssv14343312, nssv14343308
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3528309
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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