A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5895007



Internal ID22670084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12518786..12518841hg38UCSC Ensembl
chr3:12560285..12560340hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17406114
Samples
Known GenesTSEN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5895007
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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