A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112205



Internal ID21295471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6049472..6117969hg38UCSC Ensembl
Innerchr12:6158638..6227135hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3868498
hg1968498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14092858
Samplessample146
Known GenesVWF
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112205
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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