A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5615318



Internal ID21563623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193511680..193511680hg38UCSC Ensembl
chr3:193229469..193229469hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17123013
SamplesNA24385
Known GenesATP13A4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5615318
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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