A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17840547



Internal ID22024190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25953396..25953396hg38UCSC Ensembl
chr8:25810912..25810912hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38188
hg19188
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6245770
Supporting Variants
Samples
Known GenesEBF2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17840547
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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