A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5868511



Internal ID22643446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3321308..3321831hg38UCSC Ensembl
chr1:3237872..3238395hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372488
Samples
Known GenesPRDM16
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5868511
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer