A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247649



Internal ID22376775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:25252943..25296552hg38UCSC Ensembl
Outerchr14:25722149..25765758hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381128
hg191128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2560n152
Supporting Variantsnssv14259042
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247649
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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