A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146726



Internal ID345931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20332282..20348000hg38UCSC Ensembl
chr22:20319805..20702290hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3815719
hg19382486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727700
Samples
Known GenesLOC729444, PI4KAP1, RIMBP3, TMEM191B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146726
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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