A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253085



Internal ID22129704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:113246584..113253188hg38UCSC Ensembl
Outerchr9:116008864..116015468hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244969
Supporting Variants
SamplesHG00513
Known GenesSLC31A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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