A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116893



Internal ID21300159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32133589..32141915hg38UCSC Ensembl
Innerchr12:32286523..32294849hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg388327
hg198327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14092920, nssv14092542, nssv14092734, nssv14093919, nssv14092712
Samplessample282, sample108, sample160, sample407, sample113
Known GenesBICD1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116893
Frequency
Sample Size467
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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