A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976347



Internal ID18611553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:65462593..65472723hg38UCSC Ensembl
Innerchr14:65929311..65939441hg19UCSC Ensembl
Innerchr14:64999064..65009194hg18UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3810131
hg1910131
hg1810131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1990546, nssv1990551, nssv1990552, nssv1990550, nssv1990547, nssv1990544, nssv1990549, nssv1990548, nssv1990543, nssv1990545
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFUT8
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976347
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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