A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506785



Internal ID283520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1251394..1251489hg38UCSC Ensembl
chr11:1272624..1272719hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17042038
Samples
Known GenesMUC5B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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