A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969791



Internal ID47176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133990918..133990969hg38UCSC Ensembl
chr6:134312056..134312107hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395800
Supporting Variants
Samples
Known GenesSLC2A12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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