A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146947



Internal ID346153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21220600..21355300hg38UCSC Ensembl
chr22:21574889..21709589hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38134701
hg19134701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727770
Samples
Known GenesPOM121L8P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146947
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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