A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976767



Internal ID22751702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54048124..54048124hg38UCSC Ensembl
chr16:54082036..54082036hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370857
Samples
Known GenesFTO
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976767
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