A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17987160



Internal ID20554202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117548667..117549854hg38UCSC Ensembl
chr11:117419382..117420569hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381188
hg191188
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457224
Supporting Variants
Samples
Known GenesDSCAML1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17987160
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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