A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17087111



Internal ID21458057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73470429..73470429hg38UCSC Ensembl
chr12:73864209..73864209hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5661401
Supporting Variants
SamplesHG02587
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17087111
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