A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652112



Internal ID21600417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8840442..8840442hg38UCSC Ensembl
chr17:8743759..8743759hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100405
SamplesNA19238
Known GenesPIK3R6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652112
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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