A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975216



Internal ID18263738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:90084282..90113734hg38UCSC Ensembl
Innerchr11:89817450..89846902hg19UCSC Ensembl
Innerchr11:89457098..89486550hg18UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3829453
hg1929453
hg1829453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1899692, nssv1899690, nssv1899694, nssv1899693, nssv1899699, nssv1899691, nssv1899696, nssv1899698, nssv1899695, nssv1899697
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesUBTFL1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975216
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