A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282871



Internal ID22156143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:87912561..87935800hg38UCSC Ensembl
Outerchr9:90527476..90550715hg19UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg3823240
hg1923240
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213009
Supporting Variants
SamplesHG00514
Known GenesSPATA31C1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282871
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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