A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974355



Internal ID18609566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:81238858..81246457hg38UCSC Ensembl
Innerchr14:81705202..81712801hg19UCSC Ensembl
Innerchr14:80774955..80782554hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg387600
hg197600
hg187600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1993215, nssv1993214, nssv1993208, nssv1993210, nssv1993207, nssv1993211, nssv1993213, nssv1993209, nssv1993216, nssv1993212
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)nsv974355
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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