A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14372502



Internal ID22152355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21438140..21438788hg38UCSC Ensembl
chr14:21906299..21906947hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38649
hg19649
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224356
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14372502
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