A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17110075



Internal ID21425080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216560022..216560022hg38UCSC Ensembl
chr2:217424745..217424745hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613827
Supporting Variants
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17110075
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