A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613613



Internal ID21561918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134781043..134781043hg38UCSC Ensembl
chr2:135538613..135538613hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108712
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613613
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