A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976595



Internal ID18611801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32857602..32868962hg38UCSC Ensembl
Innerchr12:33010536..33021896hg19UCSC Ensembl
Innerchr12:32901803..32913163hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3811361
hg1911361
hg1811361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1924734, nssv1924731, nssv1924726, nssv1924732, nssv1924729, nssv1924733, nssv1924725, nssv1924728, nssv1924727, nssv1924730
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPKP2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976595
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