A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934347



Internal ID22709671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:206512..250903hg38UCSC Ensembl
chr20:187153..231544hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3844392
hg1944392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404677
Samples
Known GenesDEFB129
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934347
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