A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14106329



Internal ID21283935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143835626..143838580hg38UCSC Ensembl
Innerchr2:144593195..144596149hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg382955
hg192955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113684
Supporting Variants
Samplessample353
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14106329
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