A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230874



Internal ID22372057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:16280628..16427633hg38UCSC Ensembl
Outerchr16:16374485..16521490hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg386922
hg196922
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3162n152
Supporting Variantsnssv14259180, nssv14259178, nssv14259181, nssv14259179, nssv14259177
SamplesHG00512, NA19238, NA19239, HG00732, HG00513
Known GenesLOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR6511A-2, MIR6770-2, NOMO3, NPIPA7, NPIPA8, PKD1P1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230874
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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