A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977463



Internal ID18612669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47199850..47201582hg38UCSC Ensembl
Innerchr14:47669053..47670785hg19UCSC Ensembl
Innerchr14:46738803..46740535hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg381733
hg191733
hg181733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1984660, nssv1984655, nssv1984653, nssv1984656, nssv1984657, nssv1984658, nssv1984654, nssv1984659, nssv1984661, nssv1984652
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMDGA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977463
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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