A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17710941



Internal ID134607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8375568..8375653hg38UCSC Ensembl
chr2:8515698..8515783hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451783
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17710941
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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