A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv983808



Internal ID18619000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24034645..24054770hg38UCSC Ensembl
Innerchr14:24503854..24523979hg19UCSC Ensembl
Innerchr14:23573694..23593819hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3820126
hg1920126
hg1820126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1979452, nssv1979446, nssv1979448, nssv1979444, nssv1979445, nssv1979453, nssv1979451, nssv1979447, nssv1979450, nssv1979449
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDHRS4L1, LRRC16B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv983808
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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