A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056309



Internal ID105366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22713413..22719154hg38UCSC Ensembl
chr12:22866347..22872088hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg385742
hg195742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504241
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056309
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002186


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