A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117147



Internal ID21300413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39375767..39528445hg38UCSC Ensembl
Innerchr8:39233286..39385964hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38152679
hg19152679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1171n145
Supporting Variantsnssv14087422, nssv14087415, nssv14087284, nssv14088260, nssv14088197, nssv14085998, nssv14088387, nssv14087227, nssv14085819, nssv14087303, nssv14087377, nssv14085231, nssv14085994, nssv14086010, nssv14086269, nssv14085924, nssv14085263
Samplessample316, sample159, sample330, sample365, sample329, sample190, sample291, sample195, sample270, sample151, sample375, sample424, sample54, sample25, sample191, sample296, sample391
Known GenesADAM3A, ADAM5
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117147
Frequency
Sample Size467
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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