A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975070



Internal ID50769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134768608..134768659hg38UCSC Ensembl
chr5:134104298..134104349hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411823
Supporting Variants
Samples
Known GenesDDX46
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975070
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009522


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