A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976558



Internal ID18265078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:3840760..3846162hg38UCSC Ensembl
Innerchr12:3949926..3955328hg19UCSC Ensembl
Innerchr12:3820187..3825589hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385403
hg195403
hg185403
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1910502, nssv1910508, nssv1910510, nssv1910501, nssv1910507, nssv1910504, nssv1910505, nssv1910509, nssv1910506, nssv1910503
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPARP11
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976558
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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