A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960463



Internal ID18249028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31937597..31952396hg38UCSC Ensembl
Innerchr17:30264616..30279415hg19UCSC Ensembl
Innerchr17:27288729..27303528hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3814800
hg1914800
hg1814800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2091860, nssv2091859, nssv2091858, nssv2091854, nssv2091853, nssv2091851, nssv2091857, nssv2091855, nssv2091856, nssv2091852
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSUZ12
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960463
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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