A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898227



Internal ID22673340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169645040..169650293hg38UCSC Ensembl
chr5:169072044..169077297hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg385254
hg195254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411193
Samples
Known GenesDOCK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898227
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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