A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244654



Internal ID22375920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:39028288..39084259hg38UCSC Ensembl
Outerchr14:39497492..39553463hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg381784
hg191784
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258221, nssv14258220
SamplesHG00731, HG00733
Known GenesSEC23A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244654
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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