A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18071593



Internal ID20638633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17565260..17568651hg38UCSC Ensembl
chr22:18044971..18048716hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383392
hg193746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6548048
Supporting Variants
Samples
Known GenesSLC25A18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18071593
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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