A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217330



Internal ID22363029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33576372..33576425hg38UCSC Ensembl
chr21:34948678..34948731hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5512n152
Supporting Variantsnssv14301887, nssv14301886, nssv14301893, nssv14301888, nssv14301889, nssv14301892, nssv14301890, nssv14301891
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSON
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217330
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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