A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578254



Internal ID21526718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:124847965..124849328hg38UCSC Ensembl
chr6:125169111..125170474hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381364
hg191364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17144676
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578254
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