A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734745



Internal ID158411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:35011023..35011242hg38UCSC Ensembl
chr21:36383320..36383539hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541551
Supporting Variants
Samples
Known GenesRUNX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734745
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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