A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5650216



Internal ID21598521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:108743985..108743985hg38UCSC Ensembl
chr12:109137761..109137761hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38912
hg19912
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17076749
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5650216
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