A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594957



Internal ID21543559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46078805..46078900hg38UCSC Ensembl
chr19:46582063..46582158hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17105420
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594957
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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