A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973399



Internal ID49651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122538014..122538065hg38UCSC Ensembl
chr5:121873709..121873760hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403328
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973399
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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