A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112748



Internal ID21296014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234887222..234894590hg38UCSC Ensembl
Innerchr1:235022969..235030337hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg387369
hg197369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14093261
Samplessample27
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112748
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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