A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040982



Internal ID95033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103848476..103853614hg38UCSC Ensembl
chr10:105608234..105613372hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg385139
hg195139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513474
Supporting Variants
Samples
Known GenesSH3PXD2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040982
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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