A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648886



Internal ID21597191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123461857..123461857hg38UCSC Ensembl
chr12:123946404..123946404hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3824047
hg1924047
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077912
SamplesHG00096
Known GenesSNRNP35
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648886
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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