A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904246



Internal ID22679422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:154028749..154030075hg38UCSC Ensembl
chr3:153746538..153747864hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg381327
hg191327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17416553
Samples
Known GenesARHGEF26-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904246
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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