A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17066404



Internal ID21479965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67342788..67342951hg38UCSC Ensembl
chr1:67808471..67808634hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38164
hg19164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5580718
Supporting Variants
SamplesHG03683
Known GenesIL12RB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17066404
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