A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258728



Internal ID22256170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30152960..30155135hg38UCSC Ensembl
Outerchr16:30164281..30166456hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382176
hg192176
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217774
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258728
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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