A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523783



Internal ID300004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7612123..7615052hg38UCSC Ensembl
chr16:7662125..7665054hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382930
hg192930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17703543
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523783
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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