A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227947



Internal ID22370282
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14378416, nssv14386190, nssv14386016, nssv14376518
SamplesHG00512, HG00731, NA19240, HG00513
Known GenesBUB1B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227947
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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