A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196248



Internal ID22346290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:87111705..87112314hg38UCSC Ensembl
chr5:86407522..86408131hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38610
hg19610
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321312
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196248
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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