A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904920



Internal ID4097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48732503..48732557hg38UCSC Ensembl
chr1:49198175..49198229hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414774
Supporting Variants
Samples
Known GenesAGBL4, BEND5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904920
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002498


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