A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5652017



Internal ID21600322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25431199..25431199hg38UCSC Ensembl
chr12:25584133..25584133hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38512
hg19512
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079558
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5652017
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