A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17840275



Internal ID22023918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:135557847..135557847hg38UCSC Ensembl
chr8:136570090..136570090hg19UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6246707
Supporting Variants
Samples
Known GenesKHDRBS3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17840275
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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