A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365942



Internal ID22591611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111489646..111489646hg38UCSC Ensembl
chr1:112032268..112032268hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5965756
Supporting Variants
Samples
Known GenesADORA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365942
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