A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497655



Internal ID274681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130197512..130197576hg38UCSC Ensembl
chr12:130682057..130682121hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685440
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497655
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