A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858843



Internal ID22042486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168513688..168513688hg38UCSC Ensembl
chr5:167940693..167940693hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6256445
Supporting Variants
Samples
Known GenesRARS
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858843
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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