A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904845



Internal ID22680023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196658703..196658841hg38UCSC Ensembl
chr3:196385574..196385712hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17416009
Samples
Known GenesNRROS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904845
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