A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5668712



Internal ID21617017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32814324..32814324hg38UCSC Ensembl
chr22:33210310..33210310hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17127152
SamplesHG00732
Known GenesSYN3, TIMP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5668712
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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