A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194614



Internal ID20761654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49466701..49513500hg38UCSC Ensembl
chr18:46993071..47039870hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3846800
hg1946800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534787
Supporting Variants
Samples
Known GenesC18orf32, MIR1539, RPL17, RPL17-C18orf32, SNORD58A, SNORD58B, SNORD58C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194614
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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