A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260202



Internal ID22133058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87993212..88002064hg38UCSC Ensembl
Outerchr16:88026818..88035670hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg388853
hg198853
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220568
Supporting Variants
SamplesHG00513
Known GenesBANP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260202
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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