A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378416



Internal ID22194952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40187050..40187658hg38UCSC Ensembl
chr15:40479251..40479859hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38609
hg19609
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227947
Supporting Variants
SamplesHG00731
Known GenesBUB1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378416
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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