A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113943



Internal ID21297209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:31230016..31232034hg38UCSC Ensembl
Innerchr18:28809979..28811997hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg382019
hg192019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv516n145
Supporting Variantsnssv14100950, nssv14099515, nssv14099545, nssv14100082, nssv14099561, nssv14100306
Samplessample235, sample102, sample391, sample89, sample113, sample398
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113943
Frequency
Sample Size467
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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