A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892893



Internal ID22667949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125575426..125575736hg38UCSC Ensembl
chr3:125294270..125294580hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394705
Samples
Known GenesOSBPL11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892893
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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