A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17840441



Internal ID22024084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142499300..142499300hg38UCSC Ensembl
chr8:143580661..143580661hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6246756
Supporting Variants
Samples
Known GenesBAI1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17840441
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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