A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933295



Internal ID22708606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54955603..54956728hg38UCSC Ensembl
chr17:53032964..53034089hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg381126
hg191126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379442
Samples
Known GenesCOX11, TOM1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933295
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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