A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14105678



Internal ID21274487
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 StatusS
Merged Variantsnsv3117370
Supporting Variants
Samplessample208
Known GenesPAX8, PAX8-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14105678
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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