A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14378146



Internal ID22233263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49367201..49367924hg38UCSC Ensembl
chr17:47444563..47445286hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38724
hg19724
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213425
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14378146
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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