A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv977473



Internal ID18265993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:63371620..63375793hg38UCSC Ensembl
Innerchr14:63838338..63842511hg19UCSC Ensembl
Innerchr14:62908091..62912264hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg384174
hg194174
hg184174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1989945, nssv1989938, nssv1989940, nssv1989943, nssv1989939, nssv1989941, nssv1989944, nssv1989942, nssv1989937, nssv1989936
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPPP2R5E
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv977473
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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