A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857026



Internal ID22040669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:64362924..64362924hg38UCSC Ensembl
chr5:63658751..63658751hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6260432
Supporting Variants
Samples
Known GenesRNF180
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857026
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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