A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858272



Internal ID22041915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132304955..132304955hg38UCSC Ensembl
chr5:131640648..131640648hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244851
Supporting Variants
Samples
Known GenesSLC22A4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858272
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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