A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974670



Internal ID50490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146601212..146601263hg38UCSC Ensembl
chr5:145980775..145980826hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395632
Supporting Variants
Samples
Known GenesPPP2R2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974670
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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