A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv975485



Internal ID18264007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49127627..49131900hg38UCSC Ensembl
Innerchr12:49521410..49525683hg19UCSC Ensembl
Innerchr12:47807677..47811950hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg384274
hg194274
hg184274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1928386, nssv1928383, nssv1928384, nssv1928389, nssv1928385, nssv1928380, nssv1928382, nssv1928387, nssv1928381, nssv1928388
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTUBA1B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv975485
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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