A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14092896



Internal ID21270676
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 StatusS
Merged Variantsnsv3112409
Supporting Variants
Samplessample154
Known GenesGALNT8
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14092896
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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