A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115485



Internal ID21298751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:230867295..230869973hg38UCSC Ensembl
Innerchr1:231003041..231005719hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382679
hg192679
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117n145
Supporting Variantsnssv14097333
Samplessample139
Known GenesC1orf198
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115485
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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