A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652880



Internal ID21601185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45083633..45083633hg38UCSC Ensembl
chr12:45477416..45477416hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17091811
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652880
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer