A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18226145



Internal ID20793185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117939526..117960168hg38UCSC Ensembl
chr8:118951765..118972407hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg3820643
hg1920643
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6434932
Supporting Variants
Samples
Known GenesEXT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18226145
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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