A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199844



Internal ID20766884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193098201..193128400hg38UCSC Ensembl
chr1:193067331..193097530hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3830200
hg1930200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327944
Supporting Variants
Samples
Known GenesCDC73, GLRX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199844
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00046


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