A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543816



Internal ID318036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42240853..42240904hg38UCSC Ensembl
chr12:42634655..42634706hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055259
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543816
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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