A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18013030



Internal ID20580070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78392752..78396774hg38UCSC Ensembl
chr13:78966887..78970909hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg384023
hg194023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492817
Supporting Variants
Samples
Known GenesRNF219-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18013030
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00069


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