A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954540



Internal ID22705231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:94226674..94226674hg38UCSC Ensembl
chr10:95986431..95986431hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353431
Samples
Known GenesPLCE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954540
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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