A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727765



Internal ID151431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21128650..21197900hg38UCSC Ensembl
chr22:21482939..21552189hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3869251
hg1969251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146501
Supporting Variants
Samples
Known GenesFAM230B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.128985


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