A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973012



Internal ID18608227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7792739..7795779hg38UCSC Ensembl
Innerchr12:7945335..7948375hg19UCSC Ensembl
Innerchr12:7836602..7839642hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg383041
hg193041
hg183041
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1912756, nssv1912758, nssv1912754, nssv1912757, nssv1912755, nssv1912753, nssv1912762, nssv1912759, nssv1912760, nssv1912761
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNANOG
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973012
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