A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546016



Internal ID320013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20689282..21312400hg38UCSC Ensembl
chr22:21043570..21666689hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38623119
hg19623120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727729
Samples
Known GenesAIFM3, BCRP2, CRKL, FAM230B, LOC400891, LZTR1, P2RX6, P2RX6P, PI4KA, POM121L4P, POM121L8P, SERPIND1, SLC7A4, SNAP29, THAP7, THAP7-AS1, TMEM191A, TUBA3FP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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