A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16948185



Internal ID32823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:13456710..13456710hg38UCSC Ensembl
chr4:13458334..13458334hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38240
hg19240
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406805
Supporting Variants
Samples
Known GenesRAB28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16948185
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.019743


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