A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215435



Internal ID22361774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186645958..186659713hg38UCSC Ensembl
Outerchr3:186363747..186377502hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272032, nssv14272036, nssv14272031, nssv14272035, nssv14272029, nssv14272033, nssv14272037, nssv14272034, nssv14272030
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesFETUB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215435
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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