A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227520



Internal ID20794560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17530737..17861592hg38UCSC Ensembl
chr8:17388246..17719101hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38330856
hg19330856
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6418102
Supporting Variants
Samples
Known GenesMTUS1, PDGFRL, SLC7A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227520
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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