A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205084



Internal ID20772124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:48469094..48788669hg38UCSC Ensembl
chr22:48864906..49184481hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38319576
hg19319576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6546306
Supporting Variants
Samples
Known GenesFAM19A5, LOC284933, MIR4535
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205084
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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