A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111469



Internal ID21294735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151360968..151432320hg38UCSC Ensembl
Innerchr1:151333444..151404796hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3871353
hg1971353
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv76n145
Supporting Variantsnssv14089241, nssv14088009, nssv14089903, nssv14105865, nssv14084746, nssv14107840, nssv14102361, nssv14086528, nssv14100175, nssv14090313, nssv14098625, nssv14106376
Samplessample80, sample182, sample170, sample91, sample383, sample375, sample56, sample287, sample43, sample246, sample268, sample163
Known GenesPOGZ, PSMB4, SELENBP1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111469
Frequency
Sample Size467
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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