A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548578



Internal ID322316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41691369..41691859hg38UCSC Ensembl
chr22:42087373..42087863hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38491
hg19491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729163
Samples
Known GenesC22orf46
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548578
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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