A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212285



Internal ID22359584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23735875..23757234hg38UCSC Ensembl
Outerchr16:23747196..23768555hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3821360
hg1921360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258703, nssv14258702
SamplesNA19238, NA19240
Known GenesCHP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212285
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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