A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979416



Internal ID18614619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:21165169..21174622hg38UCSC Ensembl
Innerchr20:21145809..21155262hg19UCSC Ensembl
Innerchr20:21093809..21103262hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg389454
hg199454
hg189454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2231554, nssv2231553, nssv2231550, nssv2231551, nssv2231557, nssv2231552, nssv2231559, nssv2231558, nssv2231555, nssv2231556
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPLK1S1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979416
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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