A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226739



Internal ID22369443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57008829..57020970hg38UCSC Ensembl
Outerchr17:55086190..55098331hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3812142
hg1912142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260780, nssv14260779, nssv14260778, nssv14260781
SamplesNA19239, HG00732, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226739
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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