A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945866



Internal ID22721348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49197429..49197498hg38UCSC Ensembl
chr13:49771565..49771634hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378735
Samples
Known GenesFNDC3A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945866
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