A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906080



Internal ID22681274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44369759..44371185hg38UCSC Ensembl
chr6:44337496..44338922hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381427
hg191427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17442815
Samples
Known GenesSPATS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906080
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