A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280816



Internal ID22117091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:9229785..9242331hg38UCSC Ensembl
Outerchr9:9229785..9242331hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg382407
hg192407
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237669
Supporting Variants
SamplesHG00512
Known GenesPTPRD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280816
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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