A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243004



Internal ID22375440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:26372154..26389707hg38UCSC Ensembl
Outerchr16:26383475..26401028hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381118
hg191118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259712, nssv14259706, nssv14259708, nssv14259714, nssv14259711, nssv14259707, nssv14259709, nssv14259713, nssv14259710
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)nsv3243004
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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