A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17112863



Internal ID21495142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26851335..26851335hg38UCSC Ensembl
chr2:27074203..27074203hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5621793
Supporting Variants
SamplesNA19238
Known GenesDPYSL5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17112863
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