A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927016



Internal ID22702244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32204127..32214796hg38UCSC Ensembl
chr8:32061643..32072312hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3810670
hg1910670
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449595
Samples
Known GenesNRG1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927016
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