A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727139



Internal ID150805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44499072..44516431hg38UCSC Ensembl
chr21:45918955..45936314hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3817360
hg1917360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550080
Supporting Variants
Samples
Known GenesTSPEAR, TSPEAR-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727139
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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