A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540776



Internal ID315485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48582326..48583126hg38UCSC Ensembl
chr22:48978138..48978938hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729733
Samples
Known GenesFAM19A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540776
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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