A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498250



Internal ID275247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8788000..8795925hg38UCSC Ensembl
chr12:8940596..8948521hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387926
hg197926
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055751
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498250
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