A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118064



Internal ID21301330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:47151692..47161308hg38UCSC Ensembl
Innerchr20:45780331..45789947hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg389617
hg199617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv689n145
Supporting Variantsnssv14100757, nssv14099840, nssv14099760, nssv14099822, nssv14100782, nssv14099797, nssv14099872, nssv14099880, nssv14100785, nssv14099918, nssv14099774, nssv14099712, nssv14099998, nssv14100817, nssv14100844, nssv14099725, nssv14100758, nssv14099897, nssv14099785, nssv14100726, nssv14100777
Samplessample382, sample80, sample182, sample171, sample369, sample52, sample345, sample96, sample419, sample140, sample403, sample387, sample130, sample43, sample197, sample107, sample259, sample89, sample371, sample162, sample386
Known GenesEYA2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118064
Frequency
Sample Size467
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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