A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978463



Internal ID18613668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76430472..76430972hg38UCSC Ensembl
Innerchr17:74426554..74427054hg19UCSC Ensembl
Innerchr17:71938149..71938649hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2112074, nssv2112082, nssv2112083, nssv2112076, nssv2112075, nssv2112077, nssv2112081, nssv2112078, nssv2112080, nssv2112079
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUBE2O
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978463
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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