A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117092



Internal ID21300358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29781004..29785669hg38UCSC Ensembl
Innerchr12:29933937..29938602hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg384666
hg194666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14091652
Samplessample92
Known GenesTMTC1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117092
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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