A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894780



Internal ID22669855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45140593..45165114hg38UCSC Ensembl
chr6:45108330..45132851hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3824522
hg1924522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17436854
Samples
Known GenesSUPT3H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894780
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