A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244969



Internal ID22376013
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253084, nssv14253085
SamplesHG00512, HG00513
Known GenesSLC31A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244969
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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