A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17066360



Internal ID21444886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65558490..65564583hg38UCSC Ensembl
chr1:66024173..66030266hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386094
hg196094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5574551
Supporting Variants
SamplesHG00732
Known GenesLEPR
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17066360
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