A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16941867



Internal ID28600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171007266..171008741hg38UCSC Ensembl
chr3:170725055..170726530hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg381476
hg191476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437881
Supporting Variants
Samples
Known GenesSLC2A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16941867
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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