A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233181



Internal ID22372683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100859870..100876657hg38UCSC Ensembl
Outerchr14:101326207..101342994hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38734
hg19734
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257956, nssv14257952, nssv14257954, nssv14257955, nssv14257951, nssv14257953
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesMEG3, MIR337, MIR493, MIR665
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233181
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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