A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228802



Internal ID22370870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87779018..87799593hg38UCSC Ensembl
Outerchr16:87812624..87833199hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3820576
hg1920576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259312, nssv14259313, nssv14259314
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228802
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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