A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684113



Internal ID107779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92620316..92622018hg38UCSC Ensembl
chr12:93014092..93015794hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381703
hg191703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496335
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684113
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000625


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