A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117370



Internal ID21300636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113249911..113256507hg38UCSC Ensembl
Innerchr2:114007488..114014084hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg386597
hg196597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14105678
Samplessample208
Known GenesPAX8, PAX8-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117370
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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