A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976372



Internal ID18264892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103412194..103414113hg38UCSC Ensembl
Innerchr14:103878531..103880450hg19UCSC Ensembl
Innerchr14:102948284..102950203hg18UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg381920
hg191920
hg181920
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2006355, nssv2006354, nssv2006356, nssv2006348, nssv2006347, nssv2006352, nssv2006353, nssv2006350, nssv2006349, nssv2006351
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMARK3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976372
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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