A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975972



Internal ID18264493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:94997804..94998804hg38UCSC Ensembl
Innerchr11:94730968..94731968hg19UCSC Ensembl
Innerchr11:94370616..94371616hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1902215, nssv1902220, nssv1902218, nssv1902216, nssv1902222, nssv1902221, nssv1902219, nssv1902223, nssv1902217, nssv1902214
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKDM4D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975972
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