A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983371



Internal ID18271879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:120521003..120524112hg38UCSC Ensembl
Innerchr12:120958806..120961915hg19UCSC Ensembl
Innerchr12:119443189..119446298hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383110
hg193110
hg183110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1945959, nssv1945963, nssv1945965, nssv1945961, nssv1945960, nssv1945964, nssv1945967, nssv1945968, nssv1945962, nssv1945966
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCOQ5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983371
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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