A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240200



Internal ID22374632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:16301630..16405938hg38UCSC Ensembl
Outerchr16:16395487..16499795hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3834535
hg1934535
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3162n152
Supporting Variantsnssv14259952, nssv14259953
SamplesHG00731, HG00732
Known GenesLOC100288162, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NPIPA7, NPIPA8, PKD1P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240200
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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