A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14102149



Internal ID21283968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:45488326..45519079hg38UCSC Ensembl
Innerchr21:46908240..46938993hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3830754
hg1930754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116319
Supporting Variants
Samplessample353
Known GenesCOL18A1, SLC19A1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14102149
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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