A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv110n145



Internal ID22813126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214399647..214405622hg38UCSC Ensembl
chr1:214572990..214578965hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg385976
hg195976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3111878, nsv3112974
Samplessample28, sample331, sample250
Known GenesPTPN14
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv110n145
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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