A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282870



Internal ID22216340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:41969857..42219216hg38UCSC Ensembl
Outerchr9:40475835..40735870hg19UCSC Ensembl
Cytoband9p13.1
Allele length
AssemblyAllele length
hg38249360
hg19260036
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219127
Supporting Variants
SamplesHG00733
Known GenesFAM74A3, SPATA31A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282870
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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