A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886646



Internal ID22661635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151359619..151435986hg38UCSC Ensembl
chr1:151332095..151408462hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3876368
hg1976368
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368449
Samples
Known GenesPOGZ, PSMB4, SELENBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886646
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