A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976359



Internal ID18611565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:81411012..81414703hg38UCSC Ensembl
Innerchr14:81877356..81881047hg19UCSC Ensembl
Innerchr14:80947109..80950800hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg383692
hg193692
hg183692
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1993415, nssv1993417, nssv1993410, nssv1993414, nssv1993409, nssv1993412, nssv1993411, nssv1993416, nssv1993413, nssv1993408
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSTON2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976359
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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