A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385292



Internal ID22238002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:90012254..90012511hg38UCSC Ensembl
chr14:90478598..90478855hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529349
Supporting Variants
SamplesHG00733
Known GenesTDP1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385292
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