A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14091652



Internal ID21292824
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 StatusS
Merged Variantsnsv3117092
Supporting Variants
Samplessample92
Known GenesTMTC1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14091652
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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