A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960107



Internal ID18248674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42610194..42612043hg38UCSC Ensembl
Innerchr17:40762212..40764061hg19UCSC Ensembl
Innerchr17:38015738..38017587hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381850
hg191850
hg181850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2097393, nssv2097397, nssv2097389, nssv2097394, nssv2097391, nssv2097392, nssv2097395, nssv2097388, nssv2097396, nssv2097390
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTUBG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960107
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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