A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858161



Internal ID22041804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80503693..80503693hg38UCSC Ensembl
chr5:79799512..79799512hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244436
Supporting Variants
Samples
Known GenesFAM151B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858161
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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