A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056596



Internal ID105556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55462495..55474739hg38UCSC Ensembl
chr12:55856279..55868523hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3812245
hg1912245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500706
Supporting Variants
Samples
Known GenesOR6C70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056596
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