A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942783



Internal ID22718226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28594998..28595485hg38UCSC Ensembl
chr17:26922016..26922503hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371466
Samples
Known GenesSPAG5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942783
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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