A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17396171



Internal ID22454041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28641197..28645017hg38UCSC Ensembl
chr22:29037185..29041005hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg383821
hg193821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5960500
Supporting Variants
Samples
Known GenesTTC28
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17396171
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