A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899010



Internal ID22674135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129849426..129852116hg38UCSC Ensembl
chr3:129568269..129570959hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382691
hg192691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402226
Samples
Known GenesTMCC1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899010
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