A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3110124



Internal ID21293390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214401263..214404329hg38UCSC Ensembl
Innerchr1:214574606..214577672hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383067
hg193067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv111n145
Supporting Variantsnssv14090290
Samplessample286
Known GenesPTPN14
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3110124
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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