A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16960960



Internal ID41284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168475354..168475354hg38UCSC Ensembl
chr4:169396505..169396505hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5400585
Supporting Variants
Samples
Known GenesDDX60L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16960960
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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