A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978628



Internal ID18613831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49441490..49455433hg38UCSC Ensembl
Innerchr18:46967860..46981803hg19UCSC Ensembl
Innerchr18:45221858..45235801hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3813944
hg1913944
hg1813944
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2122514, nssv2122518, nssv2122523, nssv2122520, nssv2122515, nssv2122522, nssv2122517, nssv2122516, nssv2122519, nssv2122521
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDYM
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978628
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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