A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14093841



Internal ID21285888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80430891..80434270hg38UCSC Ensembl
Innerchr12:80824671..80828050hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg383380
hg193380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3117062
Supporting Variants
Samplessample380
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14093841
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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