A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5925021



Internal ID22700248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117552092..117552335hg38UCSC Ensembl
chr11:117422807..117423050hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365213
Samples
Known GenesDSCAML1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5925021
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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