A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3118133



Internal ID21301399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:219694678..219700689hg38UCSC Ensembl
Innerchr1:219868020..219874031hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386012
hg196012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14084576
Samplessample196
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3118133
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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