A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17713258



Internal ID136924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43732488..43774082hg38UCSC Ensembl
chr17:41809856..41851450hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3841595
hg1941595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526908
Supporting Variants
Samples
Known GenesDUSP3, SOST
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17713258
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