A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17064046



Internal ID21402244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244781440..244781582hg38UCSC Ensembl
chr1:244944742..244944884hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572620
Supporting Variants
SamplesHG00096
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17064046
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