A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146260



Internal ID345465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44944890..44944952hg38UCSC Ensembl
chr22:45340770..45340832hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729448
Samples
Known GenesPHF21B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146260
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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