A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17036947



Internal ID92387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73249923..73250006hg38UCSC Ensembl
chr10:75009681..75009764hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484850
Supporting Variants
Samples
Known GenesDNAJC9-AS1, MRPS16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17036947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002029


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