A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961415



Internal ID18249975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70263316..70273124hg38UCSC Ensembl
Innerchr2:70490448..70500256hg19UCSC Ensembl
Innerchr2:70343952..70353760hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg389809
hg199809
hg189809
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2176595, nssv2176599, nssv2176597, nssv2176592, nssv2176591, nssv2176593, nssv2176594, nssv2176598, nssv2176596, nssv2176600
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)nsv961415
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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