A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727641



Internal ID151307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19487249..19487868hg38UCSC Ensembl
chr22:19474772..19475391hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5538428
Supporting Variants
Samples
Known GenesCDC45
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727641
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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