A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14105161



Internal ID21278003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44273233..44299970hg38UCSC Ensembl
Innerchr2:44500372..44527109hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3826738
hg1926738
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111677
Supporting Variants
Samplessample262
Known GenesSLC3A1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14105161
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