A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108760



Internal ID21448790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:142590757..142590757hg38UCSC Ensembl
chr2:143348326..143348326hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610831
Supporting Variants
SamplesHG00864
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108760
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