A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5651186



Internal ID21599491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47523688..47523688hg38UCSC Ensembl
chr18:45050059..45050059hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101215, nssv17101216
SamplesHG03486, HG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5651186
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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