A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5647440



Internal ID21595745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29227346..29227346hg38UCSC Ensembl
chr16:29238667..29238667hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092478
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5647440
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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