A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214287



Internal ID22360981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:198162754..198175795hg38UCSC Ensembl
Outerchr3:197889625..197902666hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381518
hg191518
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271791, nssv14271790, nssv14271466, nssv14271789
SamplesHG00512, NA19238, NA19239, HG00513
Known GenesFAM157A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214287
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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