A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205061



Internal ID20772101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47210301..47213800hg38UCSC Ensembl
chr22:47606051..47609550hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6544105
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205061
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00017


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