A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942564



Internal ID22718003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6674574..6854846hg38UCSC Ensembl
chr16:6724575..6904847hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38180273
hg19180273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375282
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942564
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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