A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727151



Internal ID150817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44652609..44652660hg38UCSC Ensembl
chr21:46072526..46072577hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426878
Supporting Variants
Samples
Known GenesTSPEAR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727151
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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