A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246666



Internal ID22376480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:72829481..72885525hg38UCSC Ensembl
Outerchr17:70825620..70881664hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3814536
hg1914536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262216, nssv14262223, nssv14262222, nssv14262217, nssv14262221, nssv14262219, nssv14262218, nssv14262220
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesSLC39A11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246666
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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