A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397603



Internal ID22455473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227666825..227728355hg38UCSC Ensembl
chr2:228531541..228593071hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3861531
hg1961531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5888363
Supporting Variants
Samples
Known GenesSLC19A3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397603
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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