A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537971



Internal ID313154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27906420..27906634hg38UCSC Ensembl
chr22:28302408..28302622hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728272
Samples
Known GenesPITPNB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537971
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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