A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967372



Internal ID45553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69110241..69110292hg38UCSC Ensembl
chr5:68406068..68406119hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405340
Supporting Variants
Samples
Known GenesSLC30A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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