A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209224



Internal ID22357335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218001751..218014850hg38UCSC Ensembl
chr2:218866474..218879573hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3813100
hg1913100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14296018, nssv14296017, nssv14296011, nssv14296016, nssv14296010, nssv14296012, nssv14296013, nssv14296014, nssv14296015
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209224
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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