A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974087



Internal ID18609300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:46504988..46508331hg38UCSC Ensembl
Innerchr13:47079123..47082466hg19UCSC Ensembl
Innerchr13:45977124..45980467hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg383344
hg193344
hg183344
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1960818, nssv1960815, nssv1960820, nssv1960817, nssv1960812, nssv1960811, nssv1960819, nssv1960814, nssv1960813, nssv1960816
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)nsv974087
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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