A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5645048



Internal ID21593353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:53649202..53649202hg38UCSC Ensembl
chr16:53683114..53683114hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17080893
SamplesHG03732
Known GenesRPGRIP1L
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5645048
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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