A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246846



Internal ID22376545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69699747..69715243hg38UCSC Ensembl
Outerchr9:72314663..72330159hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg385943
hg195943
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281370, nssv14281371
SamplesNA19239, NA19240
Known GenesPTAR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246846
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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