A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112974



Internal ID21296240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:214399647..214405622hg38UCSC Ensembl
Innerchr1:214572990..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 Variantsdgv110n145
Supporting Variantsnssv14091195
Samplessample28
Known GenesPTPN14
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112974
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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