A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237022



Internal ID22373765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:31083308..31109114hg38UCSC Ensembl
Outerchr16:31094629..31120435hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382802
hg192802
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260696
SamplesNA19239
Known GenesBCKDK, PRSS53, VKORC1, ZNF646
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237022
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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