A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448041



Internal ID22505911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27499327..27499539hg38UCSC Ensembl
chr8:27356844..27357056hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5911402
Supporting Variants
Samples
Known GenesEPHX2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448041
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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