A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542739



Internal ID317127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48582363..48583469hg38UCSC Ensembl
chr22:48978175..48979281hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg381107
hg191107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729734
Samples
Known GenesFAM19A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542739
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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