A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972131



Internal ID48785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:104031523..104031574hg38UCSC Ensembl
chr5:103367224..103367275hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403066
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972131
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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