A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624293



Internal ID21572598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119525206..119525206hg38UCSC Ensembl
chr2:120282782..120282782hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38362
hg19362
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108113
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624293
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