A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14106147



Internal ID21290533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214400813..214404233hg38UCSC Ensembl
Innerchr1:214574156..214577576hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383421
hg193421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111791
Supporting Variants
Samplessample60
Known GenesPTPN14
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14106147
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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