A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976611



Internal ID18611817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49268633..49270486hg38UCSC Ensembl
Innerchr12:49662416..49664269hg19UCSC Ensembl
Innerchr12:47948683..47950536hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381854
hg191854
hg181854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1926744, nssv1926746, nssv1926741, nssv1926743, nssv1926742, nssv1926745, nssv1926738, nssv1926737, nssv1926740, nssv1926739
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTUBA1C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976611
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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