A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547206



Internal ID321080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56825049..56825100hg38UCSC Ensembl
chr12:57218833..57218884hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057791
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547206
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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