A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689285



Internal ID112951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76711825..76720279hg38UCSC Ensembl
chr12:77105605..77114059hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388455
hg198455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507646
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689285
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