A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv982989



Internal ID18271497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17435226..17436321hg38UCSC Ensembl
Innerchr11:17456773..17457868hg19UCSC Ensembl
Innerchr11:17413349..17414444hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381096
hg191096
hg181096
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1876877, nssv1876872, nssv1876873, nssv1876869, nssv1876875, nssv1876878, nssv1876876, nssv1876870, nssv1876871, nssv1876874
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesABCC8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv982989
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