A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6000193



Internal ID21909536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55695866..55695919hg38UCSC Ensembl
chr5:54991694..54991747hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17546754
Samples
Known GenesSLC38A9
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6000193
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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