A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234481



Internal ID22373044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105516016..105643227hg38UCSC Ensembl
Outerchr14:105982353..106109564hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3822476
hg1922476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258996, nssv14258995
SamplesNA19239, HG00731
Known GenesMIR8071-1, MIR8071-2, TMEM121
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234481
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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