A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945016



Internal ID30675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6327763..6327804hg38UCSC Ensembl
chr4:6329490..6329531hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408781
Supporting Variants
Samples
Known GenesPPP2R2C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945016
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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