A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594209



Internal ID21542805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124960242..124960349hg38UCSC Ensembl
chr11:124830138..124830245hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17073461
SamplesHG00731
Known GenesCCDC15
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594209
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer