A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241245



Internal ID22374916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14813087..15315750hg38UCSC Ensembl
Outerchr16:14906944..15409607hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg386762
hg196762
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260138, nssv14259167, nssv14259817, nssv14260137, nssv14259818, nssv14260139
SamplesHG00512, NA19238, NA19239, HG00732, HG00733, HG00513
Known GenesABCC6P2, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR6511A-2, MIR6511B-1, MIR6770-2, NOMO1, NPIPA1, NTAN1, PDXDC1, RRN3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241245
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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