A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972183



Internal ID22747118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72987845..72987845hg38UCSC Ensembl
chr13:73561983..73561983hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370958
Samples
Known GenesPIBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972183
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