A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213153



Internal ID20780193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123390225..123403134hg38UCSC Ensembl
chr5:122725919..122738828hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3812910
hg1912910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415417
Supporting Variants
Samples
Known GenesCEP120
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213153
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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