A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112409



Internal ID21295675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:4755680..4763258hg38UCSC Ensembl
Innerchr12:4864846..4872424hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg387579
hg197579
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14093892, nssv14092896
Samplessample154, sample398
Known GenesGALNT8
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112409
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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