A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973020



Internal ID18608235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9011333..9030113hg38UCSC Ensembl
Innerchr12:9163929..9182709hg19UCSC Ensembl
Innerchr12:9055196..9073976hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3818781
hg1918781
hg1818781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1913721, nssv1913725, nssv1913718, nssv1913723, nssv1913724, nssv1913720, nssv1913726, nssv1913722, nssv1913727, nssv1913719
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973020
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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