A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17856511



Internal ID22040154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116548673..116548673hg38UCSC Ensembl
chr1:117091295..117091295hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256693
Supporting Variants
Samples
Known GenesCD58
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17856511
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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