A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6082941



Internal ID21992174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132717298..132717298hg38UCSC Ensembl
chr12:133293884..133293884hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17615372
Samples
Known GenesPGAM5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6082941
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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