A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729673



Internal ID153339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47639476..47639485hg38UCSC Ensembl
chr22:48035225..48035234hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551411
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729673
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.017171


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