A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18230549



Internal ID20797589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119914565..119918586hg38UCSC Ensembl
chr8:120926805..120930826hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg384022
hg194022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6434127
Supporting Variants
Samples
Known GenesDEPTOR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18230549
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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