A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246762



Internal ID22376518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101037597..101041388hg38UCSC Ensembl
Outerchr14:101503934..101507725hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381051
hg191051
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258224
SamplesHG00731
Known GenesMIR300, MIR376A1, MIR376A2, MIR376B, MIR376C, MIR654
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246762
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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