A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211003



Internal ID22358705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49758001..49761100hg38UCSC Ensembl
chr18:47284371..47287470hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3851n152
Supporting Variantsnssv14284169, nssv14284177, nssv14284173, nssv14284174, nssv14284176, nssv14284170, nssv14284175, nssv14284172, nssv14284171
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211003
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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