A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047312



Internal ID99383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:45982233..45982549hg38UCSC Ensembl
chr11:46003784..46004100hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497885
Supporting Variants
Samples
Known GenesPHF21A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047312
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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