A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549308



Internal ID322985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46244416..46255262hg38UCSC Ensembl
chr22:46640313..46651159hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3810847
hg1910847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729557
Samples
Known GenesCDPF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549308
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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