A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282779



Internal ID22130899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:36354223..36365554hg38UCSC Ensembl
Outerchr9:36354220..36365551hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3811332
hg1911332
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222022
Supporting Variants
SamplesHG00513
Known GenesRNF38
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282779
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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