A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111245



Internal ID21443374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214864037..214866106hg38UCSC Ensembl
chr2:215728761..215730830hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382070
hg192070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5582623
Supporting Variants
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111245
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