A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040252



Internal ID94540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5226630..5234072hg38UCSC Ensembl
chr11:5247860..5255302hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg387443
hg197443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5506253
Supporting Variants
Samples
Known GenesHBB, HBD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040252
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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