A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511373



Internal ID287956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68959987..68967452hg38UCSC Ensembl
chr12:69353767..69361232hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg387466
hg197466
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688853
Samples
Known GenesCPM
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511373
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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