A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5664363



Internal ID21612668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13526378..13526378hg38UCSC Ensembl
chr12:13679312..13679312hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17078965
SamplesNA19238
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5664363
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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