A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237147



Internal ID22373805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1851576..1889256hg38UCSC Ensembl
Outerchr16:1901577..1939257hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382483
hg192483
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3111n152
Supporting Variantsnssv14260082, nssv14260080, nssv14260079, nssv14260084, nssv14260081, nssv14260086, nssv14260085, nssv14260083
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesLINC00254, MEIOB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237147
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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