A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904486



Internal ID22679663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135108887..135108949hg38UCSC Ensembl
chr3:134827729..134827791hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396938
Samples
Known GenesEPHB1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904486
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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