A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5657952



Internal ID21606257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46078805..46078805hg38UCSC Ensembl
chr19:46582063..46582063hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105421
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5657952
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