A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116737



Internal ID21300003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:53365580..53369980hg38UCSC Ensembl
Innerchr17:51442941..51447341hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg384401
hg194401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv500n145
Supporting Variantsnssv14098788, nssv14098605, nssv14098919, nssv14098096, nssv14098925, nssv14098775, nssv14098716, nssv14098934, nssv14098779, nssv14098856, nssv14098913, nssv14098859, nssv14098039
Samplessample98, sample154, sample70, sample159, sample93, sample156, sample125, sample51, sample95, sample128, sample419, sample368, sample163
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116737
Frequency
Sample Size467
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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