A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983813



Internal ID18619005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34485736..34491369hg38UCSC Ensembl
Innerchr14:34954942..34960575hg19UCSC Ensembl
Innerchr14:34024693..34030326hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg385634
hg195634
hg185634
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1981389, nssv1981392, nssv1981395, nssv1981393, nssv1981394, nssv1981396, nssv1981388, nssv1981397, nssv1981391, nssv1981390
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983813
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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