A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983821



Internal ID18272327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46651236..46652000hg38UCSC Ensembl
Innerchr14:47120439..47121203hg19UCSC Ensembl
Innerchr14:46190189..46190953hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38765
hg19765
hg18765
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1986579, nssv1986583, nssv1986585, nssv1986587, nssv1986582, nssv1986581, nssv1986580, nssv1986584, nssv1986586, nssv1986588
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesRPL10L
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983821
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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