A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727064



Internal ID150730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42541720..42541796hg38UCSC Ensembl
chr21:43961830..43961906hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550899
Supporting Variants
Samples
Known GenesSLC37A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727064
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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