A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14105322



Internal ID21291675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214400373..214404329hg38UCSC Ensembl
Innerchr1:214573716..214577672hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg383957
hg193957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3110756
Supporting Variants
Samplessample78
Known GenesPTPN14
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14105322
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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