A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262216



Internal ID22119836
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246666
Supporting Variants
SamplesHG00512
Known GenesSLC39A11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262216
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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