A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960269



Internal ID18248836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:20930938..20951677hg38UCSC Ensembl
Innerchr18:18510899..18531638hg19UCSC Ensembl
Innerchr18:16764721..16785636hg18UCSC Ensembl
Cytoband18q11.1
Allele length
AssemblyAllele length
hg3820740
hg1920740
hg1820916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2120834, nssv2120826, nssv2120828, nssv2120832, nssv2120829, nssv2120831, nssv2120827, nssv2120830, nssv2120833, nssv2120835
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesROCK1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960269
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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