A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213425



Internal ID22360378
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377025, nssv14378146, nssv14379076, nssv14380041, nssv14379595, nssv14381266, nssv14377318
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213425
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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