A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv973089



Internal ID18261618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:68842568..68844055hg38UCSC Ensembl
Innerchr12:69236348..69237835hg19UCSC Ensembl
Innerchr12:67522615..67524102hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381488
hg191488
hg181488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1938476, nssv1938477, nssv1938479, nssv1938472, nssv1938471, nssv1938470, nssv1938478, nssv1938475, nssv1938473, nssv1938474
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMDM2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv973089
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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