A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv965861



Internal ID18601091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:18484079..18486527hg38UCSC Ensembl
Innerchr20:18464723..18467171hg19UCSC Ensembl
Innerchr20:18412723..18415171hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382449
hg192449
hg182449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2229847, nssv2229850, nssv2229852, nssv2229851, nssv2229848, nssv2229845, nssv2229844, nssv2229853, nssv2229849, nssv2229846
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPOLR3F
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv965861
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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