A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205013



Internal ID20772053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31348001..31603200hg38UCSC Ensembl
chr22:31743987..31999186hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38255200
hg19255200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6548421
Supporting Variants
Samples
Known GenesDRG1, EIF4ENIF1, SFI1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205013
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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