A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979016



Internal ID18267533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70249169..70258961hg38UCSC Ensembl
Innerchr2:70476301..70486093hg19UCSC Ensembl
Innerchr2:70329805..70339597hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg389793
hg199793
hg189793
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2176520, nssv2176517, nssv2176522, nssv2176518, nssv2176521, nssv2176524, nssv2176523, nssv2176519, nssv2176516, nssv2176525
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPCYOX1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979016
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