A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112795



Internal ID21296061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99138467..99140955hg38UCSC Ensembl
Innerchr12:99532245..99534733hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382489
hg192489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14093698, nssv14091616
Samplessample83, sample332
Known GenesANKS1B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112795
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer