A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5649762



Internal ID21598067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6083014..6083014hg38UCSC Ensembl
chr16:6133015..6133015hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17081363
SamplesHG03009
Known GenesRBFOX1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5649762
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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