A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553032



Internal ID326323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146206898..146206932hg38UCSC Ensembl
chr5:145586461..145586495hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974644
Samples
Known GenesRBM27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553032
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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