A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734734



Internal ID158400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34824411..34824542hg38UCSC Ensembl
chr21:36196708..36196839hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5542860
Supporting Variants
Samples
Known GenesRUNX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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