A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17857864



Internal ID22041507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103263620..103263620hg38UCSC Ensembl
chr5:102599321..102599321hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6244616
Supporting Variants
Samples
Known GenesC5orf30
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17857864
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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