A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558119



Internal ID331193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42902305..43295409hg38UCSC Ensembl
chr22:43298311..43691415hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38393105
hg19393105
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729273
Samples
Known GenesBIK, MCAT, PACSIN2, SCUBE1, TSPO, TTLL1, TTLL12
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558119
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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