A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283552



Internal ID22142019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:89042259..89060850hg38UCSC Ensembl
Outerchr9:91657174..91675765hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246452
Supporting Variants
SamplesHG00513
Known GenesSHC3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283552
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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