A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253135



Internal ID22144092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87912561..87934580hg38UCSC Ensembl
Outerchr9:90527476..90549495hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg3810432
hg1910432
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247210
Supporting Variants
SamplesHG00514
Known GenesSPATA31C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253135
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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