A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488045



Internal ID265366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2149033..2152051hg38UCSC Ensembl
chr9:2149033..2152051hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg383019
hg193019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17020992
Samples
Known GenesSMARCA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488045
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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