A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908130



Internal ID6211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113503835..113513835hg38UCSC Ensembl
chr1:114046457..114056457hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431962
Supporting Variants
Samples
Known GenesMAGI3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908130
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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