A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042072



Internal ID95750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1454218..1454326hg38UCSC Ensembl
chr11:1475448..1475556hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38109
hg19109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504573
Supporting Variants
Samples
Known GenesBRSK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042072
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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