A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282794



Internal ID22122451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40646733..40654536hg38UCSC Ensembl
Outerchr9:42740539..42747123hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg387804
hg196585
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221472
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282794
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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