A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648796



Internal ID21597101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48252720..48252720hg38UCSC Ensembl
chr19:48755977..48755977hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105108
SamplesNA18939
Known GenesCARD8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648796
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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