A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542767



Internal ID317152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58921926..58921928hg38UCSC Ensembl
chr12:59315707..59315709hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17058840
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542767
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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