A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508006



Internal ID284708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127696926..127702684hg38UCSC Ensembl
chr12:128181471..128187229hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg385759
hg195759
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685270
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508006
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