A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974644



Internal ID50472
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 StatusS
Merged Variantsnsv5553032
Supporting Variants
Samples
Known GenesRBM27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974644
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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