A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648333



Internal ID21596638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117354288..117354288hg38UCSC Ensembl
chr12:117792093..117792093hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077269
SamplesHG03125
Known GenesNOS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648333
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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