A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494417



Internal ID271563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73143525..73143578hg38UCSC Ensembl
chr11:72854570..72854623hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17048304
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494417
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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