A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975239



Internal ID18610447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125113441..125115230hg38UCSC Ensembl
Innerchr11:124983337..124985126hg19UCSC Ensembl
Innerchr11:124488547..124490336hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg381790
hg191790
hg181790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1908755, nssv1908751, nssv1908754, nssv1908753, nssv1908746, nssv1908748, nssv1908747, nssv1908752, nssv1908749, nssv1908750
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975239
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