A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17060300



Internal ID21479359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109248516..109248623hg38UCSC Ensembl
chr1:109791138..109791245hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5564597
Supporting Variants
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17060300
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