A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971920



Internal ID48632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109839106..109839157hg38UCSC Ensembl
chr5:109174807..109174858hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406702
Supporting Variants
Samples
Known GenesMAN2A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971920
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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