A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245942



Internal ID22376281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2860675..2866455hg38UCSC Ensembl
Outerchr16:2910676..2916456hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg386318
hg196318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260102, nssv14260110, nssv14260106, nssv14260105, nssv14260109, nssv14260103, nssv14260104, nssv14260107, nssv14260108
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245942
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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