A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214563



Internal ID22361183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77220856..77221212hg38UCSC Ensembl
chr14:77687199..77687555hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2675n152
Supporting Variantsnssv14392390, nssv14380797, nssv14382925, nssv14386180
SamplesHG00512, NA19238, NA19239, HG00513
Known GenesTMEM63C
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214563
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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