A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5671717



Internal ID21620023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36680096..36680096hg38UCSC Ensembl
chr22:37076141..37076141hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17125112
SamplesHG00731
Known GenesCACNG2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5671717
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