A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6098547



Internal ID22007780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132717335..132717335hg38UCSC Ensembl
chr12:133293921..133293921hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17605386
Samples
Known GenesPGAM5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6098547
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