A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045753



Internal ID98265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46754591..46754642hg38UCSC Ensembl
chr11:46776141..46776192hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5397372
Supporting Variants
Samples
Known GenesCKAP5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045753
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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