A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5909905



Internal ID22685115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2971257..2981133hg38UCSC Ensembl
chr12:3080423..3090299hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389877
hg199877
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352655
Samples
Known GenesTEAD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5909905
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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