A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734721



Internal ID158387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34546057..34546092hg38UCSC Ensembl
chr21:35918355..35918390hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563733
Supporting Variants
Samples
Known GenesRCAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734721
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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