A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18225729



Internal ID20792769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52363539..52708295hg38UCSC Ensembl
chr8:53276099..53620855hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38344757
hg19344757
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426673
Supporting Variants
Samples
Known GenesFAM150A, RB1CC1, ST18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18225729
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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