A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623423



Internal ID21571728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246783088..246783088hg38UCSC Ensembl
chr1:246946390..246946390hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063973
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623423
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