A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389893



Internal ID22447763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27769552..27769552hg38UCSC Ensembl
chr22:28165540..28165540hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969580
Supporting Variants
Samples
Known GenesMN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17389893
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer