A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17439272



Internal ID22497142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28485424..28486474hg38UCSC Ensembl
chr8:28342941..28343991hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5920458
Supporting Variants
Samples
Known GenesFBXO16
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17439272
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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