A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282824



Internal ID22139803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128136793..128142580hg38UCSC Ensembl
Outerchr9:130899072..130904859hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg385788
hg195788
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218117
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282824
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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