A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5632730



Internal ID21581035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47863624..47863624hg38UCSC Ensembl
chr8:48776185..48776185hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17154746
SamplesHG02492
Known GenesPRKDC
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5632730
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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