A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206805



Internal ID20773846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40775552..40781443hg38UCSC Ensembl
chr22:41171556..41177447hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg385892
hg195892
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6549515
Supporting Variants
Samples
Known GenesSLC25A17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206805
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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