A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957344



Internal ID22732468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30086973..30087039hg38UCSC Ensembl
chr22:30482962..30483028hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398908
Samples
Known GenesHORMAD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957344
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