A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648343



Internal ID21596648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40406273..40406273hg38UCSC Ensembl
chr19:40912180..40912180hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105188
SamplesHG02011
Known GenesPRX
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648343
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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