A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3536828



Internal ID22406050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10501310..10501588hg38UCSC Ensembl
chr19:10611986..10612264hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4134n152
Supporting Variantsnssv14285982, nssv14285981, nssv14285979, nssv14285980, nssv14285984, nssv14285983, nssv14285985
SamplesNA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesKEAP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3536828
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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