A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898176



Internal ID22673289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49461564..49480584hg38UCSC Ensembl
chr6:49429277..49448297hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3819021
hg1919021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17431591
Samples
Known GenesCENPQ, MUT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898176
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