A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17097219



Internal ID21446093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48966776..48966859hg38UCSC Ensembl
chr16:49000687..49000770hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5592734
Supporting Variants
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17097219
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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