A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281280



Internal ID22134185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:107770232..107778739hg38UCSC Ensembl
Outerchr9:110532513..110541020hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg388508
hg198508
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215439
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281280
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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