A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973258



Internal ID22748193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54154939..54154939hg38UCSC Ensembl
chr20:52771478..52771478hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390858
Samples
Known GenesCYP24A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973258
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