A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281298



Internal ID22257674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:124437553..124457509hg38UCSC Ensembl
Outerchr9:127199832..127219788hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3819957
hg1919957
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223030
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281298
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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