A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5648391



Internal ID21596696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62486255..62486255hg38UCSC Ensembl
chr12:62880035..62880035hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17080909
SamplesNA12878
Known GenesMON2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5648391
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