A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281143



Internal ID22254597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:14682480..14689538hg38UCSC Ensembl
Outerchr9:14682478..14689536hg19UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg387059
hg197059
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222878
Supporting Variants
SamplesNA19238
Known GenesZDHHC21
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281143
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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