A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505219



Internal ID282001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90907243..90907313hg38UCSC Ensembl
chr12:91301020..91301090hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689977
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505219
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer