A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963318



Internal ID18598559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51993060..51994208hg38UCSC Ensembl
Innerchr3:52027076..52028224hg19UCSC Ensembl
Innerchr3:52002116..52003264hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381149
hg191149
hg181149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2281546, nssv2281543, nssv2281540, nssv2281542, nssv2281545, nssv2281544, nssv2281547, nssv2281539, nssv2281541, nssv2281538
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL29
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963318
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