A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14092911



Internal ID21270920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121465602..121468364hg38UCSC Ensembl
Innerchr12:121903405..121906167hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382763
hg192763
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116766
Supporting Variants
Samplessample157
Known GenesKDM2B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14092911
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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