A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047876



Internal ID99781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62765000..62773200hg38UCSC Ensembl
chr11:62532472..62540672hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg388201
hg198201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513625
Supporting Variants
Samples
Known GenesPOLR2G, TAF6L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047876
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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