A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418123



Internal ID197304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93680237..93680288hg38UCSC Ensembl
chr12:94074013..94074064hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684153
Samples
Known GenesCRADD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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