A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178479



Internal ID20745519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:14371301..14499100hg38UCSC Ensembl
chr18:14371300..14499099hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38127800
hg19127800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523791
Supporting Variants
Samples
Known GenesCXADRP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178479
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00025


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