A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242768



Internal ID22375375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23447681..23460216hg38UCSC Ensembl
Outerchr16:23459002..23471537hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259833, nssv14259832
SamplesHG00512, HG00731
Known GenesCOG7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242768
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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