A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5641047



Internal ID21589352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138775842..138775842hg38UCSC Ensembl
chr6:139096979..139096979hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg382733
hg192733
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17144653
SamplesNA24385
Known GenesCCDC28A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5641047
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