A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213156



Internal ID20780196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123420301..123433600hg38UCSC Ensembl
chr5:122755995..122769294hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3813300
hg1913300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413339
Supporting Variants
Samples
Known GenesCEP120
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213156
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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