A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146483



Internal ID345688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31290543..31290650hg38UCSC Ensembl
chr22:31686529..31686636hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728479
Samples
Known GenesPIK3IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146483
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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