A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976612



Internal ID18611818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49272336..49274700hg38UCSC Ensembl
Innerchr12:49666119..49668483hg19UCSC Ensembl
Innerchr12:47952386..47954750hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382365
hg192365
hg182365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1926843, nssv1926836, nssv1926837, nssv1926834, nssv1926842, nssv1926840, nssv1926838, nssv1926835, nssv1926841, nssv1926839
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)nsv976612
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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