A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116247



Internal ID21299513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26653487..26660206hg38UCSC Ensembl
Innerchr18:24233451..24240170hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg386720
hg196720
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14100154
Samplessample289
Known GenesKCTD1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116247
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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