A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608754



Internal ID21557059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113236378..113236378hg38UCSC Ensembl
chr2:113993955..113993955hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17107555
SamplesHG00732
Known GenesPAX8, PAX8-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608754
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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