A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215632



Internal ID22361897
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14383132, nssv14379948, nssv14373516, nssv14392051, nssv14373642
SamplesNA19238, NA19239, HG00732, NA19240, HG00514
Known GenesBTBD7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215632
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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