A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5610645



Internal ID21558950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60418444..60418444hg38UCSC Ensembl
chr2:60645579..60645579hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114581
SamplesNA19239
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5610645
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