A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5477942



Internal ID255506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:92721200..92721276hg38UCSC Ensembl
chr9:95483482..95483558hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17025645
Samples
Known GenesBICD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5477942
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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