A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510146



Internal ID286774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:57498887..57498947hg38UCSC Ensembl
chr11:57266360..57266420hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046986
Samples
Known GenesSLC43A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510146
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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