A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259317



Internal ID22145212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88076234..88085769hg38UCSC Ensembl
Outerchr16:88109840..88119375hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg389536
hg199536
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225644
Supporting Variants
SamplesHG00514
Known GenesBANP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259317
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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