A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945670



Internal ID22721150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10230560..10230613hg38UCSC Ensembl
chr19:10341236..10341289hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404014
Samples
Known GenesS1PR2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945670
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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