A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077242



Internal ID21512337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116599211..116599211hg38UCSC Ensembl
chr12:117037016..117037016hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5658509
Supporting Variants
SamplesNA24385
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077242
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