A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3113993



Internal ID21297259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:218910588..218914566hg38UCSC Ensembl
Innerchr1:219083930..219087908hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383979
hg193979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14087965, nssv14102416
Samplessample43, sample245
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3113993
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer