A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402693



Internal ID22460563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17852304..17852370hg38UCSC Ensembl
chr22:18335070..18335136hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5951342
Supporting Variants
Samples
Known GenesMICAL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402693
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