A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110452



Internal ID21509990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174547561..174547661hg38UCSC Ensembl
chr2:175412289..175412389hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5564739
Supporting Variants
SamplesNA20847
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110452
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