A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978783



Internal ID18613986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:17861250..17862337hg38UCSC Ensembl
Innerchr19:17972059..17973146hg19UCSC Ensembl
Innerchr19:17833059..17834146hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381088
hg191088
hg181088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2137826, nssv2137828, nssv2137824, nssv2137825, nssv2137819, nssv2137827, nssv2137823, nssv2137822, nssv2137820, nssv2137821
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRPL18A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978783
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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