A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960147



Internal ID18248714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:68209538..68229828hg38UCSC Ensembl
Innerchr17:66205679..66225969hg19UCSC Ensembl
Innerchr17:63717274..63737564hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3820291
hg1920291
hg1820291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2110870, nssv2110867, nssv2110863, nssv2110865, nssv2110868, nssv2110866, nssv2110862, nssv2110869, nssv2110864, nssv2110861
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960147
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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