A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281946



Internal ID22186909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:107253692..107273834hg38UCSC Ensembl
Outerchr9:110015973..110036115hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg3820143
hg1920143
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214267
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281946
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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