A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17067305



Internal ID21402655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89329010..89329010hg38UCSC Ensembl
chr1:89794693..89794693hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5608503
Supporting Variants
SamplesHG00171
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17067305
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer