A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983266



Internal ID18271774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6536306..6538095hg38UCSC Ensembl
Innerchr12:6645472..6647261hg19UCSC Ensembl
Innerchr12:6515733..6517522hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381790
hg191790
hg181790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1912406, nssv1912410, nssv1912411, nssv1912408, nssv1912405, nssv1912403, nssv1912409, nssv1912407, nssv1912402, nssv1912404
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesGAPDH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983266
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