A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111878



Internal ID21295144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214399647..214404329hg38UCSC Ensembl
Innerchr1:214572990..214577672hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384683
hg194683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv110n145
Supporting Variantsnssv14093972, nssv14088143
Samplessample331, sample250
Known GenesPTPN14
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111878
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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