A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371482



Internal ID22228907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49820974..49821495hg38UCSC Ensembl
chr14:50287692..50288213hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527918
Supporting Variants
SamplesHG00733
Known GenesNEMF
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371482
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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