A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976344



Internal ID18611550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:58284632..58285957hg38UCSC Ensembl
Innerchr14:58751350..58752675hg19UCSC Ensembl
Innerchr14:57821103..57822428hg18UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg381326
hg191326
hg181326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1988417, nssv1988423, nssv1988420, nssv1988421, nssv1988422, nssv1988416, nssv1988424, nssv1988425, nssv1988418, nssv1988419
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesFLJ31306
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976344
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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