A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943139



Internal ID22718583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14001632..14082581hg38UCSC Ensembl
chr16:14095489..14176438hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg3880950
hg1980950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382014
Samples
Known GenesMKL2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943139
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