A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983852



Internal ID18619044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:94726129..94727129hg38UCSC Ensembl
Innerchr14:95192466..95193466hg19UCSC Ensembl
Innerchr14:94262219..94263219hg18UCSC Ensembl
Cytoband14q32.13
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 Variantsnssv1996530, nssv1996534, nssv1996535, nssv1996528, nssv1996536, nssv1996532, nssv1996533, nssv1996527, nssv1996529, nssv1996531
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)nsv983852
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