A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976372



Internal ID22751307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:4784589..4784589hg38UCSC Ensembl
chr16:4834590..4834590hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383546
Samples
Known GenesSEPT12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976372
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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