A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952840



Internal ID22728144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78326955..78326955hg38UCSC Ensembl
chr9:80941871..80941871hg19UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446098
Samples
Known GenesPSAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952840
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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