A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14098248



Internal ID21284091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:244862552..244865063hg38UCSC Ensembl
Innerchr1:245025854..245028365hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382512
hg192512
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115542
Supporting Variants
Samplessample357
Known GenesHNRNPU
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14098248
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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