A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17393846



Internal ID22451716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50941374..50941374hg38UCSC Ensembl
chr20:49557911..49557911hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967782
Supporting Variants
Samples
Known GenesDPM1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17393846
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