A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282861



Internal ID22132377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:96308000..96323706hg38UCSC Ensembl
Outerchr9:99070282..99085988hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg3815707
hg1915707
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213234
Supporting Variants
SamplesHG00513
Known GenesSLC35D2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282861
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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