A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5917519



Internal ID22692738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126286193..126288375hg38UCSC Ensembl
chr11:126156088..126158270hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg382183
hg192183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356862
Samples
Known GenesTIRAP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5917519
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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