A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654973



Internal ID21603278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49945423..49945423hg38UCSC Ensembl
chr12:50339206..50339206hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17085667
SamplesNA18534
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654973
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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