A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504454



Internal ID281255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1204311..1445084hg38UCSC Ensembl
chr11:1225541..1466314hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38240774
hg19240774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042026
Samples
Known GenesBRSK2, MIR6744, MUC5B, TOLLIP, TOLLIP-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504454
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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