A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17521298



Internal ID21845657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225833645..225833947hg38UCSC Ensembl
chr1:226021346..226021648hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5982735
Supporting Variants
Samples
Known GenesEPHX1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17521298
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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