A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976608



Internal ID18611814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48164663..48169788hg38UCSC Ensembl
Innerchr12:48558446..48563571hg19UCSC Ensembl
Innerchr12:46844713..46849838hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg385126
hg195126
hg185126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1928776, nssv1928775, nssv1928779, nssv1928781, nssv1928784, nssv1928783, nssv1928778, nssv1928777, nssv1928780, nssv1928782
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976608
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