A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729732



Internal ID153398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48542185..48542318hg38UCSC Ensembl
chr22:48937997..48938130hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550233
Supporting Variants
Samples
Known GenesFAM19A5, LOC284933
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729732
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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