A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17062500



Internal ID21413217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:2141872..2141872hg38UCSC Ensembl
chr1:2073311..2073311hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38630
hg19630
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611697
Supporting Variants
SamplesHG00513
Known GenesPRKCZ
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17062500
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