A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258996



Internal ID22275181
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234481
Supporting Variants
SamplesNA19239
Known GenesMIR8071-1, MIR8071-2, TMEM121
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258996
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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