A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17109955



Internal ID21425123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196749892..196750223hg38UCSC Ensembl
chr2:197614616..197614947hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581110
Supporting Variants
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17109955
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