A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976628



Internal ID18265148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56663007..56664811hg38UCSC Ensembl
Innerchr12:57056791..57058595hg19UCSC Ensembl
Innerchr12:55343058..55344862hg18UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg381805
hg191805
hg181805
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1933642, nssv1933635, nssv1933636, nssv1933641, nssv1933644, nssv1933639, nssv1933640, nssv1933638, nssv1933643, nssv1933637
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPTGES3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976628
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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