A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531673



Internal ID307626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6465637..7218632hg38UCSC Ensembl
chr16:6515638..7268633hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38752996
hg19752996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv189n206
Supporting Variantsnssv17704931
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531673
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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