A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17119931



Internal ID21474407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50528300..50528300hg38UCSC Ensembl
chr3:50565731..50565731hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5615600
Supporting Variants
SamplesHG03371
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17119931
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