A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904918



Internal ID4095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48715183..48715234hg38UCSC Ensembl
chr1:49180855..49180906hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394519
Supporting Variants
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904918
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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