A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729472



Internal ID153138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45247581..45517164hg38UCSC Ensembl
chr22:45643462..45913044hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38269584
hg19269583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5540341
Supporting Variants
Samples
Known GenesFAM118A, FBLN1, RIBC2, SMC1B, UPK3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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