A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976338



Internal ID18264858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:49618712..49621719hg38UCSC Ensembl
Innerchr14:50085430..50088437hg19UCSC Ensembl
Innerchr14:49155180..49158187hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg383008
hg193008
hg183008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1985245, nssv1985247, nssv1985253, nssv1985251, nssv1985252, nssv1985250, nssv1985249, nssv1985248, nssv1985244, nssv1985246
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesMGAT2, RPL36AL
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976338
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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