A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227028



Internal ID22369644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:126150078..126150412hg38UCSC Ensembl
chr12:126634624..126634958hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14366733, nssv14366732
SamplesNA19239, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227028
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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