A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983828



Internal ID18619020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:55763766..55767211hg38UCSC Ensembl
Innerchr14:56230484..56233929hg19UCSC Ensembl
Innerchr14:55300237..55303682hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg383446
hg193446
hg183446
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1987921, nssv1987926, nssv1987922, nssv1987920, nssv1987925, nssv1987923, nssv1987918, nssv1987927, nssv1987919, nssv1987924
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL13AP3
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983828
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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