A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980183



Internal ID22755118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18622086..18622086hg38UCSC Ensembl
chr11:18643633..18643633hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352486
Samples
Known GenesSPTY2D1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980183
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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