A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14392051



Internal ID22183315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93246136..93248034hg38UCSC Ensembl
chr14:93712482..93714380hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381899
hg191899
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215632
Supporting Variants
SamplesHG00514
Known GenesBTBD7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14392051
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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